Variant report

Variant	nsv539743
Chromosome Location	chr8:126012282-126137840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2023)
CpG islands
(count:980)
Chromatin interactive
region (count:261)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2023 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:126137840-126138449	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:126130748-126130992	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:126123079-126123444	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:126103958-126104181	K562	blood:	n/a	n/a
5	ATF1	chr8:126103865-126104330	K562	blood:	n/a	n/a
6	ATF1	chr8:126098132-126098234	K562	blood:	n/a	n/a
7	ATF1	chr8:126112310-126112668	K562	blood:	n/a	n/a
8	ATF2	chr8:126103769-126104224	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr8:126103850-126104314	GM12878	blood:	n/a	n/a
10	ATF2	chr8:126103692-126104350	GM12878	blood:	n/a	n/a
11	ATF2	chr8:126122876-126123398	GM12878	blood:	n/a	n/a
12	ATF2	chr8:126122831-126123528	GM12878	blood:	n/a	n/a
13	ATF3	chr8:126103727-126104223	H1-hESC	embryonic stem cell:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
14	ATF3	chr8:126103848-126104199	K562	blood:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
15	ATF3	chr8:126122989-126123429	A549	lung:	n/a	n/a
16	ATF3	chr8:126103857-126104348	K562	blood:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
17	ATF3	chr8:126103754-126104224	H1-hESC	embryonic stem cell:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
18	ATF3	chr8:126103795-126104229	K562	blood:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
19	ATF3	chr8:126103696-126104400	A549	lung:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
20	ATF3	chr8:126103793-126104436	GM12878	blood:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
21	ATF3	chr8:126103745-126104401	HepG2	liver:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
22	ATF3	chr8:126103861-126104152	GM12878	blood:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
23	ATF3	chr8:126103631-126104460	A549	lung:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
24	ATF3	chr8:126103829-126104250	HepG2	liver:	n/a	chr8:126104019-126104028 chr8:126104073-126104093 chr8:126104055-126104064
25	BACH1	chr8:126104048-126104235	K562	blood:	n/a	n/a
26	BACH1	chr8:126103060-126103208	K562	blood:	n/a	n/a
27	BACH1	chr8:126103744-126104173	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr8:126029184-126029364	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr8:126012154-126012298	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr8:126122944-126123463	GM12878	blood:	n/a	n/a
31	BATF	chr8:126122995-126123460	GM12878	blood:	n/a	n/a
32	BATF	chr8:126131396-126131670	GM12878	blood:	n/a	chr8:126131602-126131612
33	BATF	chr8:126103848-126104235	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:126123023-126123393	GM12878	blood:	n/a	chr8:126123178-126123187
35	BCL11A	chr8:126123051-126123376	GM12878	blood:	n/a	chr8:126123178-126123187
36	BCL3	chr8:126103710-126104405	A549	lung:	n/a	chr8:126103791-126103804
37	BCL3	chr8:126103733-126104371	A549	lung:	n/a	chr8:126103791-126103804
38	BCLAF1	chr8:126131367-126131705	GM12878	blood:	n/a	chr8:126131604-126131613
39	BCLAF1	chr8:126122855-126123393	GM12878	blood:	n/a	chr8:126123178-126123187
40	BCLAF1	chr8:126103798-126104311	GM12878	blood:	n/a	n/a
41	BHLHE40	chr8:126103596-126104245	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:126131300-126131583	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:126122959-126123354	GM12878	blood:	n/a	n/a
44	BHLHE40	chr8:126137808-126138186	HepG2	liver:	n/a	n/a
45	BHLHE40	chr8:126012147-126012390	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:126103595-126104339	K562	blood:	n/a	n/a
47	BHLHE40	chr8:126012269-126012526	K562	blood:	n/a	n/a
48	BHLHE40	chr8:126131578-126131647	K562	blood:	n/a	n/a
49	BHLHE40	chr8:126036219-126036412	K562	blood:	n/a	n/a
50	BHLHE40	chr8:126111763-126111963	K562	blood:	n/a	n/a

(count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126100743-126100793	GM19239	blood:	n/a
2	chr8:126096148-126096198	NHDF-neo	bronchial:	n/a
3	chr8:126104329-126104379	SAEC	small airway:	n/a
4	chr8:126103969-126104019	HRE	kidney:	n/a
5	chr8:126100743-126100793	GM19239	blood:	n/a
6	chr8:126096148-126096198	NHDF-neo	bronchial:	n/a
7	chr8:126104329-126104379	SAEC	small airway:	n/a
8	chr8:126103969-126104019	HRE	kidney:	n/a
9	chr8:126100743-126100793	AG09309	skin:	n/a
10	chr8:126107457-126107507	CMK	blood:	n/a
11	chr8:126104368-126104418	HEK293	kidney:	embryo
12	chr8:126097158-126097208	AG04449	skin:	fetal
13	chr8:126100743-126100793	NH-A	brain:	n/a
14	chr8:126096148-126096198	LNCaP	prostate:	n/a
15	chr8:126107457-126107507	HCM	heart:	n/a
16	chr8:126104387-126104437	Hela-S3	cervix:	n/a
17	chr8:126020660-126020710	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:126100743-126100793	HRCEpiC	kidney:	n/a
19	chr8:126100743-126100793	AG09319	gingival:	n/a
20	chr8:126104368-126104418	HMEC	breast:	n/a
21	chr8:126012434-126012484	T-47D	breast:	n/a
22	chr8:126100743-126100793	IMR90	lung:	fetal
23	chr8:126103969-126104019	SK-N-SH	brain:	n/a
24	chr8:126104368-126104418	ECC-1	luminal epithelium:	n/a
25	chr8:126096148-126096198	Jurkat	blood:	n/a
26	chr8:126107457-126107507	HCF	heart:	n/a
27	chr8:126104329-126104379	SK-N-SH_RA	brain:	n/a
28	chr8:126107457-126107507	AoSMC	blood vessel:	n/a
29	chr8:126103681-126103731	BE2_C	brain:	n/a
30	chr8:126103343-126103393	NB4	blood:	n/a
31	chr8:126020660-126020710	Jurkat	blood:	n/a
32	chr8:126012434-126012484	K562	blood:	n/a
33	chr8:126100743-126100793	CMK	blood:	n/a
34	chr8:126104540-126104590	Caco-2	colon:	n/a
35	chr8:126082720-126082770	HRCEpiC	kidney:	n/a
36	chr8:126082720-126082770	K562	blood:	n/a
37	chr8:126103980-126104030	GM12878	blood:	n/a
38	chr8:126096148-126096198	Hela-S3	cervix:	n/a
39	chr8:126097158-126097208	HCT-116	colon:	n/a
40	chr8:126020660-126020710	T-47D	breast:	n/a
41	chr8:126103992-126104042	SKMC	muscle:	n/a
42	chr8:126096148-126096198	ProgFib	skin:	n/a
43	chr8:126103969-126104019	AG10803	skin:	n/a
44	chr8:126104387-126104437	SK-N-SH	brain:	n/a
45	chr8:126103992-126104042	RPTEC	kidney:	n/a
46	chr8:126107457-126107507	HIPEpiC	eye:	n/a
47	chr8:126082720-126082770	HMEC	breast:	n/a
48	chr8:126096148-126096198	HUVEC	blood vessel:	n/a
49	chr8:126103343-126103393	HRE	kidney:	n/a
50	chr8:126104329-126104379	HCF	heart:	n/a

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr8:126030894..126034599-chr8:126035083..126038244,4	K562	blood:
2	chr8:126054260..126055838-chr8:126069090..126070904,2	K562	blood:
3	chr8:126049172..126050836-chr8:126102500..126104804,2	K562	blood:
4	chr8:126081836..126082728-chrX:149461650..149462234,2	MCF-7	breast:
5	chr8:126046373..126048492-chr8:126055636..126058261,2	K562	blood:
6	chr8:126016227..126018490-chr8:126018578..126021256,2	MCF-7	breast:
7	chr8:126102864..126104610-chr8:126121575..126124532,2	K562	blood:
8	chr8:126038176..126039711-chr8:126070696..126072979,2	MCF-7	breast:
9	chr8:126011958..126013693-chr8:126058329..126060674,2	MCF-7	breast:
10	chr8:126070042..126072649-chr8:126091335..126093606,2	MCF-7	breast:
11	chr8:126079813..126082557-chr8:126108973..126111318,2	MCF-7	breast:
12	chr8:126102968..126106954-chr8:126119806..126124843,7	MCF-7	breast:
13	chr8:126089121..126090954-chr8:126122040..126124119,2	K562	blood:
14	chr8:126130319..126132027-chr8:126443795..126444880,8	MCF-7	breast:
15	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
16	chr8:126024478..126026122-chr8:126035947..126038156,2	MCF-7	breast:
17	chr8:126062224..126064968-chr8:126067116..126069922,2	MCF-7	breast:
18	chr8:126056781..126058989-chr8:126065527..126067431,2	K562	blood:
19	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
20	chr8:126132393..126134587-chr8:126146402..126148822,2	K562	blood:
21	chr8:126032820..126035325-chr8:126036016..126038466,2	MCF-7	breast:
22	chr8:126034261..126037481-chr8:126054342..126057092,3	MCF-7	breast:
23	chr8:126081491..126084049-chr8:126089591..126091899,2	MCF-7	breast:
24	chr8:126128243..126129213-chr8:126709089..126709603,2	K562	blood:
25	chr8:126028822..126031408-chr8:126036412..126038864,2	MCF-7	breast:
26	chr8:126102057..126105558-chr8:126119918..126121740,3	MCF-7	breast:
27	chr8:126097682..126099676-chr8:126442452..126445308,2	MCF-7	breast:
28	chr8:126040564..126044371-chr8:126078561..126080498,4	MCF-7	breast:
29	chr8:126109384..126111604-chr8:126122578..126124828,2	MCF-7	breast:
30	chr8:126009562..126013092-chr8:126024583..126027089,5	MCF-7	breast:
31	chr8:126117610..126119168-chr8:126119754..126122274,2	MCF-7	breast:
32	chr8:126111855..126116017-chr8:126120644..126122400,3	MCF-7	breast:
33	chr8:126079990..126082331-chr8:126093213..126095389,2	MCF-7	breast:
34	chr8:126081874..126084254-chr8:126086357..126088747,2	MCF-7	breast:
35	chr8:126036415..126039009-chr8:126059941..126062119,2	MCF-7	breast:
36	chr8:126065661..126068015-chr8:126076648..126079016,2	MCF-7	breast:
37	chr13:84542040..84542911-chr8:126075328..126076038,2	MCF-7	breast:
38	chr8:126064613..126066926-chr8:126072082..126074677,2	K562	blood:
39	chr8:125548946..125551897-chr8:126103590..126105323,2	MCF-7	breast:
40	chr8:126110371..126112024-chr8:126113544..126116413,2	K562	blood:
41	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
42	chr8:126130804..126131330-chr8:126655487..126656322,2	K562	blood:
43	chr8:126053606..126055381-chr8:126068286..126070029,2	MCF-7	breast:
44	chr8:125984363..125986971-chr8:126010848..126012374,2	K562	blood:
45	chr8:125594943..125596479-chr8:126063725..126065231,2	MCF-7	breast:
46	chr8:126130235..126131316-chr8:126242799..126243406,4	MCF-7	breast:
47	chr8:125548441..125550525-chr8:126045562..126047599,2	K562	blood:
48	chr8:126038176..126039711-chr8:126070696..126072979,2	MCF-7	breast:
49	chr8:126044688..126047972-chr8:126048094..126050682,3	K562	blood:
50	chr1:149859050..149860817-chr8:126019264..126021671,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-5	chr8:126016582-126018223	l_3677_chr8:126016111-126021316_testes
2	lnc-ZNF572-2	chr8:126030873-126031355	NONHSAT128953
3	lnc-ZNF572-2	chr8:126030184-126030443	NONHSAT128953
4	lnc-ZNF572-3	chr8:126024693-126027169	ucscGeneNc_uc003yrq_1
5	lnc-ZNF572-3	chr8:126032239-126032518	ucscGeneNc_uc003yrq_1
6	lnc-KIAA0196-5	chr8:126019131-126021316	l_3677_chr8:126016111-126021316_testes
7	lnc-ZNF572-3	chr8:126028966-126029215	ucscGeneNc_uc003yrq_1
8	lnc-ZNF572-3	chr8:126027478-126027582	ucscGeneNc_uc003yrq_1
9	lnc-KIAA0196-5	chr8:126016112-126016577	l_3677_chr8:126016111-126021316_testes

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KIAA0196	hsa-miR-34a-5p	chr8:126036613-126036634

Variant related genes	Relation type
KIAA0196	TF binding region
ENSG00000253513	TF binding region
NSMCE2	TF binding region
SQLE	TF binding region
KIAA0196-AS1	TF binding region
KIAA0196	CpG island
ENSG00000253513	CpG island
NSMCE2	CpG island
SQLE	CpG island
KIAA0196-AS1	CpG island
ENSG00000255080	chromatin interactions
ENSG00000188542	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000253167	chromatin interactions
ENSG00000144504	chromatin interactions
ENSG00000180938	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000272486	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000255491	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000113441	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000173334	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000168216	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000247121	chromatin interactions

Extended variants
information (count: 5052 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:5052 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73704508	chr8:126012286-126012287	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542322757	chr8:126012315-126012316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs561817273	chr8:126012478-126012479	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs530887746	chr8:126012483-126012484	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs553127369	chr8:126012540-126012541	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs142944342	chr8:126012556-126012557	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs117545679	chr8:126012606-126012607	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs533728983	chr8:126012618-126012619	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs191815737	chr8:126012686-126012687	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs566473131	chr8:126012694-126012695	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs199928084	chr8:126012773-126012774	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs184311754	chr8:126012778-126012779	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs189263262	chr8:126012795-126012796	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs569001999	chr8:126012812-126012813	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs537926943	chr8:126012816-126012817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs542868778	chr8:126012828-126012829	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs563985345	chr8:126012839-126012840	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs558027346	chr8:126012875-126012876	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs577910795	chr8:126012895-126012896	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs534099565	chr8:126012899-126012900	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs182319119	chr8:126012926-126012927	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs187383078	chr8:126012953-126012954	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs541883267	chr8:126013034-126013035	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs561728977	chr8:126013056-126013057	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs62529091	chr8:126013073-126013074	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs13268726	chr8:126013134-126013135	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs544297071	chr8:126013187-126013188	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs564342161	chr8:126013222-126013223	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs533322661	chr8:126013258-126013259	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs547288264	chr8:126013276-126013277	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs531328960	chr8:126013289-126013290	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs560597015	chr8:126013290-126013291	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs2382997	chr8:126013295-126013296	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4347009	chr8:126013303-126013304	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371413105	chr8:126013307-126013308	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs568863939	chr8:126013347-126013348	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs188922706	chr8:126013384-126013385	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs2382998	chr8:126013400-126013401	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547194558	chr8:126013432-126013433	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs567811809	chr8:126013463-126013464	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs181364461	chr8:126013520-126013521	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs577949769	chr8:126013571-126013572	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs151115251	chr8:126013613-126013614	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs148454550	chr8:126013691-126013692	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs371861064	chr8:126013692-126013693	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs71865123	chr8:126013701-126013702	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs71864105	chr8:126013725-126013726	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs57946751	chr8:126013726-126013727	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs558946802	chr8:126013727-126013728	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs57273790	chr8:126013731-126013732	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:152)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:4397 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126009400-126014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
4	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:126010000-126012400	Active TSS	Aorta	Aorta
16	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
19	chr8:126010000-126014200	Active TSS	K562	blood
20	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
21	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:126010000-126014600	Active TSS	NHLF	lung
24	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:126010200-126012600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr8:126010200-126012800	Active TSS	Ovary	ovary
29	chr8:126010200-126013000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:126010200-126013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:126010200-126013000	Active TSS	Gastric	stomach
32	chr8:126010200-126013000	Active TSS	HMEC	breast
33	chr8:126010200-126013200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:126010200-126013400	Active TSS	Lung	lung
35	chr8:126010200-126013400	Active TSS	Stomach Mucosa	stomach
36	chr8:126010200-126013600	Active TSS	HSMM	muscle
37	chr8:126010200-126013600	Active TSS	NH-A	brain
38	chr8:126010200-126013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:126010200-126013800	Active TSS	Esophagus	oesophagus
40	chr8:126010200-126014000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr8:126010200-126014000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:126010200-126014000	Active TSS	HSMMtube	muscle
43	chr8:126010200-126014000	Active TSS	NHEK	skin
44	chr8:126010200-126014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:126010200-126014200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:126010200-126014600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:126010200-126014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:126010200-126014800	Active TSS	Brain Germinal Matrix	brain
49	chr8:126010200-126015000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr8:126010200-126015400	Active TSS	GM12878-XiMat	blood

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