Variant report

Variant	nsv1047479
Chromosome Location	chr9:139754184-139869440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6006)
CpG islands
(count:3967)
Chromatin interactive
region (count:447)
LncRNA
region (count:16)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:6006 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139780533-139780996	K562	blood:	n/a	n/a
2	ARID3A	chr9:139860638-139860838	K562	blood:	n/a	n/a
3	ARID3A	chr9:139839043-139839584	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:139839075-139839364	K562	blood:	n/a	n/a
5	ARID3A	chr9:139844800-139844903	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:139785139-139785222	K562	blood:	n/a	n/a
7	ARID3A	chr9:139760711-139760911	K562	blood:	n/a	n/a
8	ARID3A	chr9:139828791-139829133	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:139769506-139769916	K562	blood:	n/a	n/a
10	ARID3A	chr9:139781413-139781581	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:139795759-139796262	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:139844336-139844495	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:139776995-139777503	HepG2	liver:	n/a	n/a
14	ARID3A	chr9:139843540-139843794	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:139779383-139779598	HepG2	liver:	n/a	n/a
16	ATF1	chr9:139760585-139761093	K562	blood:	n/a	n/a
17	ATF1	chr9:139839002-139839680	K562	blood:	n/a	n/a
18	ATF1	chr9:139780562-139780946	K562	blood:	n/a	n/a
19	ATF1	chr9:139769514-139769972	K562	blood:	n/a	n/a
20	ATF2	chr9:139776134-139776586	GM12878	blood:	n/a	n/a
21	ATF2	chr9:139760665-139761040	GM12878	blood:	n/a	n/a
22	ATF2	chr9:139839036-139839575	GM12878	blood:	n/a	n/a
23	ATF2	chr9:139838950-139839618	GM12878	blood:	n/a	n/a
24	ATF2	chr9:139776954-139777336	GM12878	blood:	n/a	n/a
25	ATF2	chr9:139793565-139794189	GM12878	blood:	n/a	n/a
26	ATF2	chr9:139776840-139777455	GM12878	blood:	n/a	n/a
27	ATF2	chr9:139796801-139797132	GM12878	blood:	n/a	n/a
28	ATF2	chr9:139796219-139797399	GM12878	blood:	n/a	n/a
29	ATF3	chr9:139779255-139779832	A549	lung:	n/a	n/a
30	ATF3	chr9:139844440-139844816	H1-hESC	embryonic stem cell:	n/a	chr9:139844580-139844600 chr9:139844591-139844611
31	ATF3	chr9:139760564-139761224	K562	blood:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
32	ATF3	chr9:139844421-139844661	GM12878	blood:	n/a	chr9:139844580-139844600 chr9:139844591-139844611
33	ATF3	chr9:139776994-139777355	K562	blood:	n/a	n/a
34	ATF3	chr9:139796786-139797264	A549	lung:	n/a	n/a
35	ATF3	chr9:139844349-139844811	GM12878	blood:	n/a	chr9:139844580-139844600 chr9:139844591-139844611
36	ATF3	chr9:139839047-139839690	A549	lung:	n/a	chr9:139839433-139839446
37	ATF3	chr9:139839043-139839521	A549	lung:	n/a	chr9:139839433-139839446
38	ATF3	chr9:139760650-139761066	H1-hESC	embryonic stem cell:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
39	ATF3	chr9:139776969-139777268	K562	blood:	n/a	n/a
40	ATF3	chr9:139780471-139780896	A549	lung:	n/a	n/a
41	ATF3	chr9:139760709-139761025	HepG2	liver:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
42	ATF3	chr9:139844344-139844705	HepG2	liver:	n/a	chr9:139844580-139844600 chr9:139844591-139844611
43	ATF3	chr9:139844406-139844730	K562	blood:	n/a	chr9:139844580-139844600 chr9:139844591-139844611
44	ATF3	chr9:139780530-139780810	K562	blood:	n/a	n/a
45	ATF3	chr9:139760683-139761050	K562	blood:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
46	ATF3	chr9:139797607-139798157	A549	lung:	n/a	n/a
47	ATF3	chr9:139776712-139777395	A549	lung:	n/a	n/a
48	ATF3	chr9:139839063-139839401	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF3	chr9:139760616-139760974	H1-hESC	embryonic stem cell:	n/a	chr9:139760883-139760903 chr9:139760894-139760914 chr9:139760832-139760841
50	ATF3	chr9:139844339-139844757	H1-hESC	embryonic stem cell:	n/a	chr9:139844580-139844600 chr9:139844591-139844611

(count:3967 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139757366-139757416	HAEpiC	amniotic membrane:	n/a
2	chr9:139801238-139801288	Hela-S3	cervix:	n/a
3	chr9:139757366-139757416	HAEpiC	amniotic membrane:	n/a
4	chr9:139801238-139801288	Hela-S3	cervix:	n/a
5	chr9:139757101-139757151	HCPEpiC	choroid plexus:	n/a
6	chr9:139844321-139844371	Caco-2	colon:	n/a
7	chr9:139838381-139838431	U87	brain:	n/a
8	chr9:139760673-139760723	Jurkat	blood:	n/a
9	chr9:139802603-139802653	Hepatocyte	liver:	n/a
10	chr9:139760673-139760723	GM19239	blood:	n/a
11	chr9:139803690-139803740	GM06990	blood:	n/a
12	chr9:139781526-139781576	ECC-1	luminal epithelium:	n/a
13	chr9:139837757-139837807	HPAEpiC	pulmonary alveolar:	n/a
14	chr9:139780417-139780467	ProgFib	skin:	n/a
15	chr9:139761812-139761862	GM12891	blood:	n/a
16	chr9:139839439-139839489	HMEC	breast:	n/a
17	chr9:139785318-139785368	HRE	kidney:	n/a
18	chr9:139836978-139837028	LNCaP	prostate:	n/a
19	chr9:139840678-139840728	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:139839439-139839489	Hepatocyte	liver:	n/a
21	chr9:139779708-139779758	PANC-1	pancreas:	n/a
22	chr9:139781526-139781576	HIPEpiC	eye:	n/a
23	chr9:139850608-139850658	LNCaP	prostate:	n/a
24	chr9:139801358-139801408	Caco-2	colon:	n/a
25	chr9:139760589-139760639	SK-N-MC	brain:	n/a
26	chr9:139779897-139779947	HRPEpiC	eye:	n/a
27	chr9:139843753-139843803	PrEC	prostate:	n/a
28	chr9:139779897-139779947	BE2_C	brain:	n/a
29	chr9:139842749-139842799	H1-hESC	embryonic stem cell:	embryo
30	chr9:139760673-139760723	HRPEpiC	eye:	n/a
31	chr9:139779897-139779947	MCF-7	breast:	n/a
32	chr9:139836994-139837044	AG09319	gingival:	n/a
33	chr9:139762006-139762056	PANC-1	pancreas:	n/a
34	chr9:139842749-139842799	NHDF-neo	bronchial:	n/a
35	chr9:139761812-139761862	HCPEpiC	choroid plexus:	n/a
36	chr9:139836443-139836493	NT2-D1	testis:	n/a
37	chr9:139837757-139837807	T-47D	breast:	n/a
38	chr9:139835353-139835403	A549	lung:	n/a
39	chr9:139762139-139762189	NT2-D1	testis:	n/a
40	chr9:139847558-139847608	HMEC	breast:	n/a
41	chr9:139760589-139760639	HRPEpiC	eye:	n/a
42	chr9:139846100-139846150	Caco-2	colon:	n/a
43	chr9:139831796-139831846	AG04449	skin:	fetal
44	chr9:139801238-139801288	HCT-116	colon:	n/a
45	chr9:139840678-139840728	GM19239	blood:	n/a
46	chr9:139760673-139760723	HCT-116	colon:	n/a
47	chr9:139785318-139785368	Hepatocyte	liver:	n/a
48	chr9:139796499-139796549	HRE	kidney:	n/a
49	chr9:139846100-139846150	T-47D	breast:	n/a
50	chr9:139804179-139804229	GM06990	blood:	n/a

(count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr9:139813084..139815232-chr9:139820953..139823580,2	K562	blood:
2	chr9:139778381..139782500-chr9:139800668..139805077,5	MCF-7	breast:
3	chr9:139741884..139743712-chr9:139842627..139845556,4	MCF-7	breast:
4	chr9:139700318..139702155-chr9:139755760..139757335,2	MCF-7	breast:
5	chr9:139841586..139844686-chr9:139854675..139858745,4	MCF-7	breast:
6	chr9:139791042..139798100-chr9:139837150..139840881,10	MCF-7	breast:
7	chr9:139849727..139851420-chr9:139864037..139866854,2	MCF-7	breast:
8	chr9:139816083..139817704-chr9:139818126..139820060,2	MCF-7	breast:
9	chr9:139758990..139764783-chr9:139834742..139840758,9	MCF-7	breast:
10	chr9:139821119..139824882-chr9:139826278..139828830,5	MCF-7	breast:
11	chr9:139842457..139844690-chr9:139937071..139941106,4	MCF-7	breast:
12	chr9:139792836..139799400-chr9:139842261..139846047,7	MCF-7	breast:
13	chr9:139834936..139840862-chr9:139842314..139844588,8	K562	blood:
14	chr9:139752435..139755424-chr9:139833520..139835870,2	MCF-7	breast:
15	chr9:139836491..139840843-chr9:139920877..139924515,5	K562	blood:
16	chr9:139792856..139794821-chr9:139800116..139802562,2	MCF-7	breast:
17	chr9:139833776..139836708-chr9:139890446..139893383,3	K562	blood:
18	chr9:139568589..139570894-chr9:139825768..139828118,2	K562	blood:
19	chr9:139620425..139622539-chr9:139854301..139855905,2	MCF-7	breast:
20	chr9:139839168..139840906-chr9:139862731..139865227,2	MCF-7	breast:
21	chr9:139769964..139771564-chr9:139789375..139792259,2	K562	blood:
22	chr9:139764124..139766205-chr9:139778253..139779759,2	K562	blood:
23	chr9:139850465..139853578-chr9:139856402..139858921,3	K562	blood:
24	chr9:139751242..139753857-chr9:139838389..139841093,3	MCF-7	breast:
25	chr9:139750688..139755458-chr9:139795433..139799837,5	MCF-7	breast:
26	chr9:139684091..139686797-chr9:139779339..139782193,3	K562	blood:
27	chr9:139778188..139780613-chr9:139888294..139891195,2	MCF-7	breast:
28	chr9:139850465..139853578-chr9:139856402..139858921,3	K562	blood:
29	chr9:139760746..139762936-chr9:139962388..139964127,2	MCF-7	breast:
30	chr9:139621327..139623652-chr9:139778302..139779885,2	MCF-7	breast:
31	chr9:139822690..139824998-chr9:139830873..139832800,3	MCF-7	breast:
32	chr9:139778819..139780705-chr9:139810347..139812332,2	MCF-7	breast:
33	chr9:139850179..139852005-chr9:139888667..139891050,2	MCF-7	breast:
34	chr9:139841052..139843067-chr9:139924290..139927247,2	K562	blood:
35	chr9:139716183..139718077-chr9:139774545..139777483,2	MCF-7	breast:
36	chr9:139789514..139792273-chr9:139796475..139799525,3	K562	blood:
37	chr9:139742293..139744367-chr9:139785112..139787540,2	K562	blood:
38	chr9:139671789..139674484-chr9:139759128..139760920,2	MCF-7	breast:
39	chr9:139747315..139748990-chr9:139818865..139820541,2	MCF-7	breast:
40	chr9:139802317..139806633-chr9:139808185..139811633,4	K562	blood:
41	chr9:139843021..139845836-chr9:139846843..139848545,2	K562	blood:
42	chr9:139758319..139759989-chr9:139844595..139846136,2	K562	blood:
43	chr9:139621075..139623507-chr9:139837293..139839645,2	K562	blood:
44	chr9:139838439..139841309-chr9:139947694..139949623,3	MCF-7	breast:
45	chr9:139821142..139822888-chr9:139858248..139860855,2	K562	blood:
46	chr9:139653006..139655212-chr9:139781373..139783358,2	K562	blood:
47	chr9:139780981..139783113-chr9:139815785..139818548,2	K562	blood:
48	chr9:139750688..139755458-chr9:139795433..139799837,5	MCF-7	breast:
49	chr9:139698302..139700386-chr9:139775133..139777095,2	MCF-7	breast:
50	chr9:139852373..139854470-chr9:139885232..139887782,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8G-2	chr9:139830292-139831613	NONHSAT135622
2	lnc-LCN12-1	chr9:139849176-139849278	NONHSAT135634
3	lnc-LCN12-1	chr9:139846772-139846893	NONHSAT135628
4	lnc-MAMDC4-3	chr9:139794255-139794736	expReg_chr9_9714_+
5	lnc-FBXW5-1	chr9:139831621-139832440	ENSG00000260190.1
6	lnc-LCN12-1	chr9:139849823-139849949	NONHSAT135633
7	lnc-LCN12-1	chr9:139844674-139844727	NONHSAT135627
8	lnc-MAMDC4-2	chr9:139777458-139779043	ucscGeneNc_uc010nco_1
9	lnc-LCN12-1	chr9:139849823-139849948	NONHSAT135628
10	lnc-LCN12-1	chr9:139848086-139848707	NONHSAT135634
11	lnc-LCN12-1	chr9:139848606-139848707	NONHSAT135633
12	lnc-LCN12-1	chr9:139849176-139849278	NONHSAT135633
13	lnc-LCN12-1	chr9:139845727-139846154	NONHSAT135627
14	lnc-LCN12-1	chr9:139848376-139848416	NONHSAT135633
15	lnc-LCN12-1	chr9:139849823-139849878	NONHSAT135634
16	lnc-LCN12-1	chr9:139848069-139848231	NONHSAT135633

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4479	chr9:139781229-139781250	MIMAT0019011

No data

Variant related genes	Relation type
LCN12	TF binding region
TRAF2	TF binding region
ENSG00000260190	TF binding region
PTGDS	TF binding region
FBXW5	TF binding region
ENSG00000213590	TF binding region
ENSG00000238268	TF binding region
MIR4479	TF binding region
EDF1	TF binding region
C9orf141	TF binding region
C8G	TF binding region
LCN12	CpG island
TRAF2	CpG island
ENSG00000260190	CpG island
PTGDS	CpG island
FBXW5	CpG island
ENSG00000213590	CpG island
ENSG00000238268	CpG island
MIR4479	CpG island
EDF1	CpG island
C9orf141	CpG island
C8G	CpG island
ENSG00000165716	chromatin interactions
ENSG00000103260	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000141519	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000213590	chromatin interactions
ENSG00000225830	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000260996	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000176884	chromatin interactions
ENSG00000005379	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000238268	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000180549	chromatin interactions
ENSG00000198454	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000181481	chromatin interactions
ENSG00000186193	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000224662	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000169692	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000268996	chromatin interactions
ENSG00000235117	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000184709	chromatin interactions
ENSG00000260190	chromatin interactions
ENSG00000262468	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000263697	chromatin interactions
ENSG00000198569	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000177239	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000265148	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000125285	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000258838	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000214402	chromatin interactions
ENSG00000177984	chromatin interactions
ENSG00000197191	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000232434	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000212864	chromatin interactions

Extended variants
information (count: 6030 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6030 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369621977	chr9:139754227-139754228	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs552660891	chr9:139754230-139754231	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs569330572	chr9:139754251-139754252	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs538466342	chr9:139754257-139754258	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs377440253	chr9:139754313-139754314	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs370220063	chr9:139754318-139754319	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs372963560	chr9:139754324-139754325	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs138030921	chr9:139754348-139754349	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs140677938	chr9:139754354-139754355	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs534226706	chr9:139754355-139754356	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs150088967	chr9:139754361-139754362	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs376613661	chr9:139754373-139754374	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs558494495	chr9:139754384-139754385	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370442407	chr9:139754385-139754386	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs374373052	chr9:139754418-139754419	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs138623341	chr9:139754427-139754428	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs149321697	chr9:139754428-139754429	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs376194555	chr9:139754430-139754431	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs146286617	chr9:139754431-139754432	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs200203276	chr9:139754520-139754521	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs370648872	chr9:139754534-139754535	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs374672721	chr9:139754554-139754555	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs199940961	chr9:139754563-139754564	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs575334645	chr9:139754567-139754568	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs544439752	chr9:139754587-139754588	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs561064978	chr9:139754588-139754589	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs529973989	chr9:139754600-139754601	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs540547959	chr9:139754602-139754603	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs371984525	chr9:139754668-139754669	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs532565882	chr9:139754694-139754695	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs140507194	chr9:139754720-139754721	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs180746649	chr9:139754722-139754723	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs543607771	chr9:139754757-139754758	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs531809065	chr9:139754804-139754805	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs1815523	chr9:139754806-139754807	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs1806500	chr9:139754817-139754818	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185456361	chr9:139754829-139754830	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs1806915	chr9:139754838-139754839	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs566112755	chr9:139754890-139754891	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs12378561	chr9:139754915-139754916	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs538665983	chr9:139754952-139754953	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs368690084	chr9:139754963-139754964	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs371426026	chr9:139754968-139754969	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs566206328	chr9:139754969-139754970	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs558363523	chr9:139754995-139754996	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs11145906	chr9:139755001-139755002	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs374295738	chr9:139755005-139755006	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs377675355	chr9:139755011-139755012	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs368013610	chr9:139755015-139755016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs201865273	chr9:139755019-139755020	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Developmental delay	20877625	CNVD
Hypoplastic	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
Palpebral fissures	20877625	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5859 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139744600-139757200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:139744800-139754800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:139744800-139755000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:139744800-139755000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:139744800-139755200	Weak transcription	Primary T cells from cord blood	blood
6	chr9:139744800-139755800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:139744800-139757800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:139744800-139758200	Weak transcription	Fetal Kidney	kidney
9	chr9:139745000-139754200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr9:139745000-139754600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:139745000-139755000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:139745000-139755000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:139745000-139755000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:139745000-139755200	Weak transcription	Fetal Thymus	thymus
15	chr9:139745000-139755200	Weak transcription	HUVEC	blood vessel
16	chr9:139745000-139755400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:139745000-139755400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:139745000-139755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:139745000-139755400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:139745000-139755600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:139745000-139756400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:139745000-139756800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:139745000-139757400	Weak transcription	HSMMtube	muscle
24	chr9:139745000-139757600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:139745000-139759400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:139745200-139757800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr9:139745200-139759400	Weak transcription	Right Atrium	heart
28	chr9:139745400-139755000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:139745400-139755600	Weak transcription	K562	blood
30	chr9:139746000-139755000	Weak transcription	Aorta	Aorta
31	chr9:139746000-139755600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr9:139746000-139759400	Weak transcription	Psoas Muscle	Psoas
33	chr9:139746400-139755000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr9:139746400-139755800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:139746400-139756400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:139746600-139755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:139746600-139755000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr9:139746600-139755000	Weak transcription	Dnd41	blood
39	chr9:139746600-139755200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:139746800-139754200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:139748000-139755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr9:139748600-139754200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr9:139748600-139754400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:139748600-139754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:139748800-139755400	Weak transcription	GM12878-XiMat	blood
46	chr9:139749000-139754200	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:139749400-139755200	Weak transcription	Ovary	ovary
48	chr9:139749600-139756000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:139751000-139759000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:139751200-139755400	Enhancers	Stomach Mucosa	stomach

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