Variant report

Variant	esv3343270
Chromosome Location	chr1:211431354-211434202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1329)
CpG islands
(count:976)
Chromatin interactive
region (count:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:211432237-211432677	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:211431434-211432873	K562	blood:	n/a	n/a
3	ATF2	chr1:211432092-211432668	GM12878	blood:	n/a	n/a
4	ATF2	chr1:211432162-211432589	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr1:211432223-211432662	A549	lung:	n/a	n/a
6	ATF3	chr1:211432294-211432523	K562	blood:	n/a	n/a
7	ATF3	chr1:211434053-211434340	K562	blood:	n/a	n/a
8	ATF3	chr1:211431564-211431903	K562	blood:	n/a	n/a
9	ATF3	chr1:211432220-211432723	K562	blood:	n/a	n/a
10	ATF3	chr1:211432200-211432689	A549	lung:	n/a	n/a
11	BACH1	chr1:211432357-211432413	K562	blood:	n/a	n/a
12	BACH1	chr1:211432335-211432553	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:211431413-211431939	K562	blood:	n/a	n/a
14	BATF	chr1:211432322-211432531	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:211433571-211433781	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:211432174-211432532	GM12878	blood:	n/a	chr1:211432251-211432264
17	BCL3	chr1:211431436-211432812	A549	lung:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264 chr1:211431840-211431849
18	BCL3	chr1:211432119-211432649	GM12878	blood:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264
19	BCL3	chr1:211431721-211432852	A549	lung:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264 chr1:211431840-211431849
20	BCLAF1	chr1:211431913-211432661	GM12878	blood:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264
21	BCLAF1	chr1:211431575-211433017	GM12878	blood:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264 chr1:211431840-211431849
22	BCLAF1	chr1:211431560-211432536	K562	blood:	n/a	chr1:211432251-211432264 chr1:211431840-211431849
23	BCLAF1	chr1:211431455-211432707	K562	blood:	n/a	chr1:211432537-211432546 chr1:211432538-211432547 chr1:211432251-211432264 chr1:211431840-211431849
24	BCLAF1	chr1:211433420-211433978	GM12878	blood:	n/a	chr1:211433817-211433830
25	BHLHE40	chr1:211434163-211434472	A549	lung:	n/a	n/a
26	BHLHE40	chr1:211432123-211432406	HepG2	liver:	n/a	n/a
27	BHLHE40	chr1:211432167-211432490	A549	lung:	n/a	n/a
28	BHLHE40	chr1:211433994-211434506	GM12878	blood:	n/a	n/a
29	BHLHE40	chr1:211431535-211433055	K562	blood:	n/a	n/a
30	BHLHE40	chr1:211431672-211433017	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:211433689-211434460	K562	blood:	n/a	n/a
32	BHLHE40	chr1:211433567-211433776	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:211434156-211434457	HepG2	liver:	n/a	n/a
34	BHLHE40	chr1:211431639-211432891	HepG2	liver:	n/a	n/a
35	BHLHE40	chr1:211432163-211432519	HepG2	liver:	n/a	n/a
36	BRCA1	chr1:211434106-211434464	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:211434194-211434450	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr1:211432220-211432426	HepG2	liver:	n/a	n/a
39	BRCA1	chr1:211431932-211432531	GM12878	blood:	n/a	n/a
40	BRCA1	chr1:211431529-211432901	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr1:211433706-211433906	GM12878	blood:	n/a	n/a
42	BRCA1	chr1:211433810-211433882	HepG2	liver:	n/a	n/a
43	CBX3	chr1:211431478-211433171	K562	blood:	n/a	n/a
44	CBX3	chr1:211432247-211432712	K562	blood:	n/a	n/a
45	CBX3	chr1:211433728-211434540	K562	blood:	n/a	n/a
46	CCNT2	chr1:211431715-211433128	K562	blood:	n/a	chr1:211432549-211432558 chr1:211432544-211432553 chr1:211432885-211432894 chr1:211432562-211432571
47	CCNT2	chr1:211433463-211434302	K562	blood:	n/a	chr1:211434096-211434105 chr1:211433770-211433779 chr1:211434083-211434092
48	CEBPB	chr1:211431557-211433010	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:211432355-211432515	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:211433747-211434339	Hela-S3	cervix:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211434133-211434183	IMR90	lung:	fetal
2	chr1:211433058-211433108	NH-A	brain:	n/a
3	chr1:211432754-211432804	HCM	heart:	n/a
4	chr1:211433058-211433108	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:211433058-211433108	ECC-1	luminal epithelium:	n/a
6	chr1:211431773-211431823	K562	blood:	n/a
7	chr1:211433485-211433535	SK-N-SH_RA	brain:	n/a
8	chr1:211431567-211431617	HRPEpiC	eye:	n/a
9	chr1:211434133-211434183	HRCEpiC	kidney:	n/a
10	chr1:211433485-211433535	Caco-2	colon:	n/a
11	chr1:211434045-211434095	GM12891	blood:	n/a
12	chr1:211434045-211434095	HL-60	blood:	n/a
13	chr1:211431773-211431823	HAEpiC	amniotic membrane:	n/a
14	chr1:211433282-211433332	NHBE	bronchial:	n/a
15	chr1:211433972-211434022	SK-N-SH_RA	brain:	n/a
16	chr1:211431567-211431617	HUVEC	blood vessel:	n/a
17	chr1:211434133-211434183	SAEC	small airway:	n/a
18	chr1:211433282-211433332	NT2-D1	testis:	n/a
19	chr1:211432745-211432795	AG04450	lung:	fetal
20	chr1:211434045-211434095	HRCEpiC	kidney:	n/a
21	chr1:211433485-211433535	IMR90	lung:	fetal
22	chr1:211433972-211434022	AG04450	lung:	fetal
23	chr1:211432536-211432586	HCPEpiC	choroid plexus:	n/a
24	chr1:211431567-211431617	RPTEC	kidney:	n/a
25	chr1:211433972-211434022	HCPEpiC	choroid plexus:	n/a
26	chr1:211432536-211432586	AG09309	skin:	n/a
27	chr1:211432536-211432586	ECC-1	luminal epithelium:	n/a
28	chr1:211431567-211431617	AG09319	gingival:	n/a
29	chr1:211432377-211432427	AG10803	skin:	n/a
30	chr1:211432106-211432156	ProgFib	skin:	n/a
31	chr1:211433972-211434022	PFSK-1	brain:	n/a
32	chr1:211432745-211432795	GM06990	blood:	n/a
33	chr1:211432536-211432586	HEK293	kidney:	embryo
34	chr1:211433485-211433535	Hepatocyte	liver:	n/a
35	chr1:211433568-211433618	HAEpiC	amniotic membrane:	n/a
36	chr1:211432377-211432427	NHBE	bronchial:	n/a
37	chr1:211431567-211431617	GM12892	blood:	n/a
38	chr1:211431773-211431823	HL-60	blood:	n/a
39	chr1:211433058-211433108	H1-hESC	embryonic stem cell:	embryo
40	chr1:211433972-211434022	SKMC	muscle:	n/a
41	chr1:211433282-211433332	GM06990	blood:	n/a
42	chr1:211432745-211432795	GM12892	blood:	n/a
43	chr1:211433485-211433535	NH-A	brain:	n/a
44	chr1:211433568-211433618	CMK	blood:	n/a
45	chr1:211434045-211434095	BJ	skin:	n/a
46	chr1:211433485-211433535	CMK	blood:	n/a
47	chr1:211432377-211432427	AG09319	gingival:	n/a
48	chr1:211432139-211432189	GM19239	blood:	n/a
49	chr1:211432139-211432189	HUVEC	blood vessel:	n/a
50	chr1:211433972-211434022	K562	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
4	chr1:211432273..211433148-chr11:62608701..62609653,2	NB4	blood:
5	chr1:211432252..211434880-chr1:211475465..211477456,2	K562	blood:
6	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
7	chr1:211431380..211432214-chr14:75745176..75745718,2	Hela-S3	cervix:
8	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
9	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
10	chr1:211432264..211433217-chr9:130497359..130497900,2	Hela-S3	cervix:
11	chr1:210546304..210548726-chr1:211433366..211435093,2	K562	blood:
12	chr1:211431871..211432822-chr12:57984812..57985355,2	Hela-S3	cervix:
13	chr1:211431774..211432328-chr15:90895431..90896017,2	Hela-S3	cervix:
14	chr1:211432150..211433116-chr6:27114889..27115470,2	Hela-S3	cervix:
15	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:
16	chr1:211431689..211435313-chr1:211451941..211455577,4	K562	blood:
17	chr1:210545931..210548726-chr1:211432289..211435093,3	K562	blood:
18	chr1:211432764..211434575-chr1:211756364..211758782,2	K562	blood:
19	chr1:211431809..211433608-chr1:212207599..212209157,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-2	chr1:211432078-211432191	NONHSAT009281
2	lnc-TRAF5-10	chr1:211433450-211433506	NONHSAT009283
3	lnc-TRAF5-10	chr1:211432948-211433068	NONHSAT009283
4	lnc-KCNH1-2	chr1:211431307-211431917	NONHSAT009281

No data

Variant related genes	Relation type
RCOR3	TF binding region
RCOR3	CpG island
ENSG00000082512	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000261314	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000196391	chromatin interactions
ENSG00000160404	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000153363	chromatin interactions
ENSG00000170385	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000265565	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114871012	chr1:211431423-211431424	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs113821429	chr1:211431463-211431464	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs376140106	chr1:211431514-211431515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs542382566	chr1:211431517-211431518	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs554772287	chr1:211431526-211431527	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs573086416	chr1:211431555-211431556	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs544351943	chr1:211431574-211431575	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs186034111	chr1:211431579-211431580	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs562530451	chr1:211431580-211431581	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs72741139	chr1:211431620-211431621	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs545419272	chr1:211431625-211431626	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs563609006	chr1:211431631-211431632	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs531006968	chr1:211431690-211431691	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs115603708	chr1:211431747-211431748	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs567475455	chr1:211431792-211431793	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs539007358	chr1:211431860-211431861	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
17	rs76825563	chr1:211431883-211431884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
18	rs571943770	chr1:211431888-211431889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
19	rs538237054	chr1:211431906-211431907	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
20	rs141098811	chr1:211431910-211431911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
21	rs568779525	chr1:211431929-211431930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs150644451	chr1:211431933-211431934	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs181739653	chr1:211431945-211431946	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs12118279	chr1:211432029-211432030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs573068244	chr1:211432036-211432037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs534018228	chr1:211432041-211432042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs112847282	chr1:211432049-211432050	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs572890176	chr1:211432050-211432051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs535236736	chr1:211432069-211432070	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs577095321	chr1:211432077-211432078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs544200010	chr1:211432212-211432213	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs575790900	chr1:211432259-211432260	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs560150675	chr1:211432266-211432267	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs575557831	chr1:211432306-211432307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs201066204	chr1:211432313-211432314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs368662790	chr1:211432315-211432316	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs11349331	chr1:211432316-211432317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs552061449	chr1:211432317-211432318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs569904534	chr1:211432318-211432319	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs528647054	chr1:211432325-211432326	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs546819067	chr1:211432336-211432337	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs565361734	chr1:211432338-211432339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs532807418	chr1:211432374-211432375	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs551003969	chr1:211432469-211432470	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs537492327	chr1:211432548-211432549	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs568791390	chr1:211432569-211432570	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs536297111	chr1:211432596-211432597	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs536885382	chr1:211432619-211432620	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs559005354	chr1:211432639-211432640	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs566603615	chr1:211432652-211432653	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211430200-211431400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr1:211430200-211431400	Enhancers	Placenta	Placenta
3	chr1:211430400-211431600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:211430400-211431600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:211430400-211431600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:211430400-211431600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:211430600-211431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:211430600-211431400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:211430600-211431400	Enhancers	Brain Angular Gyrus	brain
10	chr1:211430600-211431400	Flanking Active TSS	Fetal Lung	lung
11	chr1:211430600-211431400	Enhancers	Fetal Thymus	thymus
12	chr1:211430600-211431600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:211430600-211431600	Flanking Active TSS	A549	lung
14	chr1:211430600-211431600	Flanking Active TSS	NHEK	skin
15	chr1:211430600-211431800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:211430600-211432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:211430600-211432200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:211430800-211431400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:211430800-211431400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:211430800-211431400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:211430800-211431400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:211430800-211431400	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr1:211430800-211431400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:211430800-211431400	Flanking Active TSS	Fetal Heart	heart
27	chr1:211430800-211431400	Flanking Active TSS	Fetal Kidney	kidney
28	chr1:211430800-211431400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:211430800-211431400	Flanking Active TSS	HSMMtube	muscle
30	chr1:211430800-211431400	Enhancers	HUVEC	blood vessel
31	chr1:211430800-211431600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:211430800-211431600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:211430800-211431600	Flanking Active TSS	Hela-S3	cervix
34	chr1:211430800-211431600	Flanking Active TSS	HMEC	breast
35	chr1:211430800-211431800	Flanking Active TSS	NH-A	brain
36	chr1:211430800-211432000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:211430800-211432000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:211430800-211432000	Bivalent/Poised TSS	HepG2	liver
39	chr1:211430800-211432200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:211430800-211432200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:211430800-211432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:211430800-211434600	Active TSS	Aorta	Aorta
43	chr1:211431000-211431400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:211431000-211431400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:211431000-211431400	Enhancers	NHDF-Ad	bronchial
46	chr1:211431000-211431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:211431000-211431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:211431000-211431600	Weak transcription	Small Intestine	intestine
49	chr1:211431000-211431800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr1:211431000-211432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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