Variant report

Variant	esv997310
Chromosome Location	chr9:139831296-139837698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:672)
Chromatin interactive
region (count:56)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr9:139834267-139835144	A549	lung:	n/a	n/a
2	BCL3	chr9:139834393-139835045	A549	lung:	n/a	n/a
3	BCL3	chr9:139833584-139834095	A549	lung:	n/a	n/a
4	CCNT2	chr9:139834994-139835152	K562	blood:	n/a	n/a
5	CEBPB	chr9:139832636-139832853	HepG2	liver:	n/a	chr9:139832757-139832768
6	CEBPB	chr9:139833578-139833794	HepG2	liver:	n/a	chr9:139833698-139833709 chr9:139833698-139833711 chr9:139833585-139833598 chr9:139833700-139833711
7	CEBPB	chr9:139832633-139832833	K562	blood:	n/a	chr9:139832757-139832768
8	CEBPB	chr9:139832583-139832915	HepG2	liver:	n/a	chr9:139832757-139832768
9	CEBPB	chr9:139832638-139832857	HepG2	liver:	n/a	chr9:139832757-139832768
10	CEBPB	chr9:139833598-139833857	Hela-S3	cervix:	n/a	chr9:139833698-139833709 chr9:139833698-139833711 chr9:139833700-139833711
11	CEBPB	chr9:139832651-139832851	A549	lung:	n/a	chr9:139832757-139832768
12	CEBPB	chr9:139832653-139832853	Hela-S3	cervix:	n/a	chr9:139832757-139832768
13	CEBPB	chr9:139833558-139833799	K562	blood:	n/a	chr9:139833698-139833709 chr9:139833698-139833711 chr9:139833585-139833598 chr9:139833700-139833711
14	CEBPB	chr9:139833461-139833895	A549	lung:	n/a	chr9:139833698-139833709 chr9:139833698-139833711 chr9:139833585-139833598 chr9:139833700-139833711
15	CEBPB	chr9:139832432-139832911	HepG2	liver:	n/a	chr9:139832757-139832768
16	CEBPB	chr9:139833562-139833821	A549	lung:	n/a	chr9:139833698-139833709 chr9:139833698-139833711 chr9:139833585-139833598 chr9:139833700-139833711
17	CEBPD	chr9:139832606-139832818	HepG2	liver:	n/a	n/a
18	CHD1	chr9:139837678-139839685	IMR90	lung:	n/a	n/a
19	CREB1	chr9:139834031-139834299	A549	lung:	n/a	n/a
20	CTCF	chr9:139834540-139834690	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr9:139833920-139834070	HepG2	liver:	n/a	n/a
22	CTCF	chr9:139831960-139832110	GM12868	blood:	n/a	n/a
23	CTCF	chr9:139834759-139834803	GM19239	blood:	n/a	n/a
24	HCFC1	chr9:139837499-139839935	Hela-S3	cervix:	n/a	n/a
25	HDAC2	chr9:139836973-139837193	K562	blood:	n/a	n/a
26	HEY1	chr9:139834547-139834718	K562	blood:	n/a	n/a
27	HMGN3	chr9:139834994-139835015	K562	blood:	n/a	n/a
28	JUND	chr9:139834380-139835546	A549	lung:	n/a	n/a
29	MAX	chr9:139834365-139835206	A549	lung:	n/a	chr9:139834724-139834734
30	MAX	chr9:139834622-139834791	NB4	blood:	n/a	chr9:139834724-139834734
31	MAX	chr9:139837115-139837477	K562	blood:	n/a	n/a
32	MAX	chr9:139834511-139834733	K562	blood:	n/a	n/a
33	MAX	chr9:139837500-139839895	A549	lung:	n/a	chr9:139838757-139838767 chr9:139837703-139837713
34	MTA3	chr9:139834626-139834972	GM12878	blood:	n/a	n/a
35	MYC	chr9:139834546-139834869	MCF-7	breast:	n/a	chr9:139834724-139834734
36	MYC	chr9:139837311-139837484	MCF-7	breast:	n/a	n/a
37	MYC	chr9:139837130-139837133	MCF-7	breast:	n/a	n/a
38	MYC	chr9:139837033-139837038	MCF-7	breast:	n/a	n/a
39	MYC	chr9:139834788-139834795	MCF-7	breast:	n/a	n/a
40	MYC	chr9:139837068-139837090	MCF-7	breast:	n/a	n/a
41	MYC	chr9:139832227-139832296	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr9:139837094-139837119	MCF-7	breast:	n/a	n/a
43	MYC	chr9:139834723-139834763	MCF-7	breast:	n/a	chr9:139834724-139834734
44	PBX3	chr9:139837635-139838720	A549	lung:	n/a	n/a
45	PBX3	chr9:139833787-139835649	A549	lung:	n/a	n/a
46	POLR2A	chr9:139834212-139834566	GM18951	blood:	n/a	n/a
47	POLR2A	chr9:139832372-139832760	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr9:139837124-139837192	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr9:139836987-139837014	ProgFib	skin:	n/a	n/a
50	POLR2A	chr9:139837323-139837418	GM12878	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139836443-139836493	HPAEpiC	pulmonary alveolar:	n/a
2	chr9:139836443-139836493	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:139831796-139831846	SAEC	small airway:	n/a
4	chr9:139836994-139837044	HUVEC	blood vessel:	n/a
5	chr9:139836323-139836373	HEEpiC	esophagus:	n/a
6	chr9:139837659-139837709	SK-N-SH	brain:	n/a
7	chr9:139835122-139835172	HRPEpiC	eye:	n/a
8	chr9:139835122-139835172	AG04450	lung:	fetal
9	chr9:139831796-139831846	AG09309	skin:	n/a
10	chr9:139837659-139837709	PFSK-1	brain:	n/a
11	chr9:139836994-139837044	H1-hESC	embryonic stem cell:	embryo
12	chr9:139836884-139836934	HUVEC	blood vessel:	n/a
13	chr9:139836443-139836493	MCF-7	breast:	n/a
14	chr9:139836323-139836373	HL-60	blood:	n/a
15	chr9:139835553-139835603	Hela-S3	cervix:	n/a
16	chr9:139836443-139836493	AG09309	skin:	n/a
17	chr9:139836443-139836493	CMK	blood:	n/a
18	chr9:139836978-139837028	HUVEC	blood vessel:	n/a
19	chr9:139835353-139835403	NB4	blood:	n/a
20	chr9:139835553-139835603	HRCEpiC	kidney:	n/a
21	chr9:139836994-139837044	U87	brain:	n/a
22	chr9:139834199-139834249	AG09319	gingival:	n/a
23	chr9:139836323-139836373	Jurkat	blood:	n/a
24	chr9:139831796-139831846	NB4	blood:	n/a
25	chr9:139836443-139836493	T-47D	breast:	n/a
26	chr9:139836994-139837044	HAEpiC	amniotic membrane:	n/a
27	chr9:139834199-139834249	ECC-1	luminal epithelium:	n/a
28	chr9:139836978-139837028	HRCEpiC	kidney:	n/a
29	chr9:139836884-139836934	AG09319	gingival:	n/a
30	chr9:139835122-139835172	HCPEpiC	choroid plexus:	n/a
31	chr9:139836978-139837028	HRE	kidney:	n/a
32	chr9:139834199-139834249	HCF	heart:	n/a
33	chr9:139836884-139836934	AG09309	skin:	n/a
34	chr9:139834199-139834249	IMR90	lung:	fetal
35	chr9:139831796-139831846	BE2_C	brain:	n/a
36	chr9:139836994-139837044	HCM	heart:	n/a
37	chr9:139836323-139836373	GM19239	blood:	n/a
38	chr9:139831796-139831846	GM12892	blood:	n/a
39	chr9:139835122-139835172	HCF	heart:	n/a
40	chr9:139835553-139835603	MCF10A-Er-Src	breast:	n/a
41	chr9:139836884-139836934	Caco-2	colon:	n/a
42	chr9:139835553-139835603	T-47D	breast:	n/a
43	chr9:139836994-139837044	HepG2	liver:	n/a
44	chr9:139835553-139835603	SAEC	small airway:	n/a
45	chr9:139836884-139836934	HMEC	breast:	n/a
46	chr9:139837659-139837709	HEEpiC	esophagus:	n/a
47	chr9:139836443-139836493	HEEpiC	esophagus:	n/a
48	chr9:139835553-139835603	ProgFib	skin:	n/a
49	chr9:139835122-139835172	AoSMC	blood vessel:	n/a
50	chr9:139836443-139836493	HCPEpiC	choroid plexus:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:139835527..139839374-chr9:139921629..139923901,3	K562	blood:
2	chr9:139741905..139745759-chr9:139836394..139841074,11	K562	blood:
3	chr9:139621075..139623507-chr9:139837293..139839645,2	K562	blood:
4	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
5	chr9:139684566..139686323-chr9:139837681..139839181,2	K562	blood:
6	chr9:139778379..139782493-chr9:139835538..139841683,7	K562	blood:
7	chr9:139777155..139782891-chr9:139837659..139842394,7	K562	blood:
8	chr9:139750899..139754581-chr9:139837670..139840574,3	K562	blood:
9	chr9:139837304..139841351-chr9:139889068..139893319,4	K562	blood:
10	chr9:139790926..139800327-chr9:139835284..139840384,15	MCF-7	breast:
11	chr9:139834772..139837352-chr9:139938256..139940469,2	MCF-7	breast:
12	chr9:139835735..139837348-chr9:139913162..139915924,2	K562	blood:
13	chr9:139752435..139755424-chr9:139833520..139835870,2	MCF-7	breast:
14	chr9:139836491..139840843-chr9:139920877..139924515,5	K562	blood:
15	chr9:139759084..139762257-chr9:139836822..139839684,5	MCF-7	breast:
16	chr9:139836972..139840310-chr9:139885072..139887174,4	K562	blood:
17	chr9:139737965..139740810-chr9:139834289..139836392,2	K562	blood:
18	chr9:139835281..139842012-chr9:139842308..139848601,13	K562	blood:
19	chr9:139837657..139841229-chr9:139875890..139877651,3	MCF-7	breast:
20	chr9:139836429..139841703-chr9:139845168..139848601,5	K562	blood:
21	chr9:139760347..139763007-chr9:139836965..139839769,2	K562	blood:
22	chr9:139701846..139704176-chr9:139836985..139838880,3	MCF-7	breast:
23	chr9:139837381..139841533-chr9:139948424..139951873,5	MCF-7	breast:
24	chr9:139728528..139730421-chr9:139837681..139839242,2	K562	blood:
25	chr9:139833070..139835457-chr9:139886709..139888900,2	MCF-7	breast:
26	chr9:139777919..139780613-chr9:139837562..139839430,2	MCF-7	breast:
27	chr9:139760778..139763207-chr9:139834767..139836838,2	K562	blood:
28	chr9:139741779..139744858-chr9:139831668..139834703,3	MCF-7	breast:
29	chr9:139684319..139687155-chr9:139837681..139840267,3	K562	blood:
30	chr9:139748081..139750685-chr9:139837672..139839306,2	MCF-7	breast:
31	chr9:139734155..139746957-chr9:139834710..139842618,30	MCF-7	breast:
32	chr9:139836818..139839181-chr9:139906279..139908196,2	K562	blood:
33	chr9:139837395..139841047-chr9:139870338..139873414,3	MCF-7	breast:
34	chr9:139830850..139832636-chr9:139886435..139888722,2	MCF-7	breast:
35	chr9:139755063..139757195-chr9:139834664..139836804,2	K562	blood:
36	chr9:139836105..139846821-chr9:139919094..139924819,24	MCF-7	breast:
37	chr9:139837601..139839212-chr9:139939827..139944267,3	MCF-7	breast:
38	chr9:139833776..139836708-chr9:139890446..139893383,3	K562	blood:
39	chr9:139745227..139747649-chr9:139830491..139832594,2	MCF-7	breast:
40	chr9:139837344..139842228-chr9:139920048..139923537,8	MCF-7	breast:
41	chr9:139684892..139687578-chr9:139837356..139841601,5	MCF-7	breast:
42	chr9:139791042..139798100-chr9:139837150..139840881,10	MCF-7	breast:
43	chr9:139813120..139815752-chr9:139837094..139840081,2	MCF-7	breast:
44	chr9:139684995..139687739-chr9:139832629..139834715,2	MCF-7	breast:
45	chr9:139741905..139746962-chr9:139835280..139841074,9	K562	blood:
46	chr9:139795540..139797953-chr9:139837525..139839445,2	K562	blood:
47	chr9:139780862..139783067-chr9:139834351..139836230,2	MCF-7	breast:
48	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:
49	chr9:139836453..139844148-chr9:139884945..139890988,15	K562	blood:
50	chr9:139738593..139754524-chr9:139832961..139844322,29	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW5-1	chr9:139831621-139832440	ENSG00000260190.1
2	lnc-C8G-2	chr9:139830292-139831613	NONHSAT135622

No data

Variant related genes	Relation type
ENSG00000260190	TF binding region
FBXW5	TF binding region
C8G	TF binding region
ENSG00000260190	CpG island
FBXW5	CpG island
C8G	CpG island
ENSG00000169692	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000214402	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000232434	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000107281	chromatin interactions

Extended variants
information (count: 554 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572195835	chr9:139831306-139831307	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs541271667	chr9:139831324-139831325	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs565189901	chr9:139831347-139831348	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs530689348	chr9:139831361-139831362	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs564315610	chr9:139831376-139831377	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs533479797	chr9:139831421-139831422	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs544059929	chr9:139831422-139831423	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs562365210	chr9:139831425-139831426	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs181450376	chr9:139831427-139831428	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs186037194	chr9:139831430-139831431	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs143359387	chr9:139831437-139831438	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs527377719	chr9:139831536-139831537	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs547640824	chr9:139831593-139831594	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs570647813	chr9:139831633-139831634	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs575165835	chr9:139831655-139831656	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs544211830	chr9:139831688-139831689	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs10116414	chr9:139831696-139831697	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs556396690	chr9:139831697-139831698	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs146703473	chr9:139831701-139831702	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs564083156	chr9:139831705-139831706	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs34338126	chr9:139831740-139831741	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs116915239	chr9:139831744-139831745	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs533151642	chr9:139831759-139831760	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs546421814	chr9:139831763-139831764	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs368995776	chr9:139831799-139831800	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs117244180	chr9:139831863-139831864	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs373045509	chr9:139831959-139831960	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs566222690	chr9:139831974-139831975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs11788087	chr9:139831980-139831981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541110296	chr9:139831988-139831989	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs10118333	chr9:139832005-139832006	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs577786577	chr9:139832011-139832012	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs543761730	chr9:139832072-139832073	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs76752073	chr9:139832158-139832159	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs574243758	chr9:139832160-139832161	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs541857488	chr9:139832192-139832193	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs1879013	chr9:139832222-139832223	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs548972325	chr9:139832301-139832302	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs571921503	chr9:139832302-139832303	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs527419931	chr9:139832304-139832305	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs34831804	chr9:139832343-139832344	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs547483894	chr9:139832371-139832372	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs77605544	chr9:139832393-139832394	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs140274206	chr9:139832421-139832422	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs549698519	chr9:139832492-139832493	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs537376190	chr9:139832501-139832502	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs569979407	chr9:139832508-139832509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs143996701	chr9:139832511-139832512	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs75955943	chr9:139832514-139832515	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565702764	chr9:139832528-139832529	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139782200-139835800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:139782200-139837000	Weak transcription	Fetal Brain Male	brain
3	chr9:139797800-139837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:139810400-139834400	Weak transcription	HSMM	muscle
5	chr9:139815000-139838200	Weak transcription	Fetal Kidney	kidney
6	chr9:139815400-139835000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:139815600-139832400	Weak transcription	Fetal Lung	lung
8	chr9:139815800-139837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:139816000-139835000	Weak transcription	Small Intestine	intestine
10	chr9:139817000-139834600	Weak transcription	HMEC	breast
11	chr9:139817000-139835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:139817000-139838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:139820800-139832000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:139820800-139834400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:139821000-139832400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:139821000-139833800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:139821200-139833600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:139821200-139835800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr9:139821400-139832200	Weak transcription	Brain Anterior Caudate	brain
20	chr9:139821400-139833600	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:139821400-139833800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:139821400-139834200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:139821400-139834600	Weak transcription	Ovary	ovary
24	chr9:139821800-139831800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:139821800-139833400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:139821800-139833600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:139822000-139832000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:139822000-139833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:139822000-139834000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:139822000-139834200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:139822000-139834400	Weak transcription	Brain Substantia Nigra	brain
32	chr9:139822200-139832000	Weak transcription	Aorta	Aorta
33	chr9:139822200-139832200	Weak transcription	Pancreas	Pancrea
34	chr9:139822200-139833600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr9:139822200-139833800	Weak transcription	Primary B cells from cord blood	blood
36	chr9:139822400-139834200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr9:139822400-139834600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:139822600-139831800	Weak transcription	Liver	Liver
39	chr9:139822600-139832400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:139822600-139833600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:139822600-139833800	Weak transcription	Gastric	stomach
42	chr9:139822600-139834000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:139822600-139837200	Weak transcription	NH-A	brain
44	chr9:139822600-139837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:139822800-139831800	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:139822800-139833600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:139823000-139833800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:139823000-139834600	Weak transcription	NHDF-Ad	bronchial
49	chr9:139823200-139831800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:139823200-139832000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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