Variant report

Variant	nsv894496
Chromosome Location	chr9:139789093-139820363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:865)
CpG islands
(count:611)
Chromatin interactive
region (count:111)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139795759-139796262	HepG2	liver:	n/a	n/a
2	ATF2	chr9:139796801-139797132	GM12878	blood:	n/a	n/a
3	ATF2	chr9:139796219-139797399	GM12878	blood:	n/a	n/a
4	ATF2	chr9:139793565-139794189	GM12878	blood:	n/a	n/a
5	ATF3	chr9:139796775-139797366	A549	lung:	n/a	n/a
6	ATF3	chr9:139796786-139797264	A549	lung:	n/a	n/a
7	ATF3	chr9:139797607-139798157	A549	lung:	n/a	n/a
8	BCL11A	chr9:139796813-139797131	GM12878	blood:	n/a	n/a
9	BCL3	chr9:139797597-139798176	A549	lung:	n/a	chr9:139797816-139797829
10	BCL3	chr9:139795624-139797410	A549	lung:	n/a	chr9:139797347-139797356
11	BCL3	chr9:139797618-139798144	A549	lung:	n/a	chr9:139797816-139797829
12	BCL3	chr9:139796862-139797143	GM12878	blood:	n/a	n/a
13	BCL3	chr9:139795421-139797476	A549	lung:	n/a	chr9:139797347-139797356
14	BCLAF1	chr9:139793519-139794276	GM12878	blood:	n/a	n/a
15	BCLAF1	chr9:139796283-139797305	GM12878	blood:	n/a	n/a
16	BCLAF1	chr9:139793643-139794077	GM12878	blood:	n/a	n/a
17	BCLAF1	chr9:139796179-139797280	GM12878	blood:	n/a	n/a
18	BHLHE40	chr9:139795536-139795546	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:139800923-139801103	GM12878	blood:	n/a	n/a
20	BHLHE40	chr9:139796177-139797269	GM12878	blood:	n/a	n/a
21	BHLHE40	chr9:139796129-139796748	A549	lung:	n/a	n/a
22	BHLHE40	chr9:139793691-139794097	GM12878	blood:	n/a	n/a
23	CEBPB	chr9:139817921-139818099	K562	blood:	n/a	n/a
24	CEBPB	chr9:139796119-139797347	GM12878	blood:	n/a	n/a
25	CEBPB	chr9:139806590-139806733	MCF-7	breast:	n/a	n/a
26	CEBPB	chr9:139809028-139809108	K562	blood:	n/a	n/a
27	CEBPB	chr9:139795490-139795837	A549	lung:	n/a	n/a
28	CEBPB	chr9:139817946-139818046	A549	lung:	n/a	n/a
29	CEBPB	chr9:139806673-139806682	IMR90	lung:	n/a	n/a
30	CHD1	chr9:139801621-139801666	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr9:139795813-139797269	GM12878	blood:	n/a	n/a
32	CHD1	chr9:139793607-139793973	GM12878	blood:	n/a	n/a
33	CHD2	chr9:139795744-139795798	GM12878	blood:	n/a	n/a
34	CHD2	chr9:139793748-139793969	GM12878	blood:	n/a	n/a
35	CHD2	chr9:139796192-139797307	GM12878	blood:	n/a	n/a
36	CREB1	chr9:139795822-139796181	A549	lung:	n/a	n/a
37	CREB1	chr9:139796746-139797306	A549	lung:	n/a	n/a
38	CREB1	chr9:139797631-139798213	A549	lung:	n/a	n/a
39	CREB1	chr9:139795718-139796698	A549	lung:	n/a	n/a
40	CREB1	chr9:139797668-139798151	A549	lung:	n/a	n/a
41	CTCF	chr9:139820180-139820330	GM12873	blood:	n/a	n/a
42	CTCF	chr9:139820320-139820470	A549	lung:	n/a	n/a
43	CTCF	chr9:139793660-139793810	SAEC	small airway:	n/a	n/a
44	CTCF	chr9:139805380-139805530	GM12869	blood:	n/a	chr9:139805457-139805475 chr9:139805463-139805472 chr9:139805452-139805473
45	CTCF	chr9:139820297-139820353	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr9:139820193-139820502	K562	blood:	n/a	n/a
47	CTCF	chr9:139820249-139820447	HepG2	liver:	n/a	n/a
48	CTCF	chr9:139820339-139820396	GM13977	blood:	n/a	n/a
49	CTCF	chr9:139793680-139793830	GM12865	blood:	n/a	n/a
50	CTCF	chr9:139805404-139805544	GM12878	blood:	n/a	chr9:139805457-139805475 chr9:139805463-139805472 chr9:139805452-139805473

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139818475-139818525	SKMC	muscle:	n/a
2	chr9:139818475-139818525	SKMC	muscle:	n/a
3	chr9:139804179-139804229	AG09319	gingival:	n/a
4	chr9:139804179-139804229	GM19239	blood:	n/a
5	chr9:139801238-139801288	SK-N-SH	brain:	n/a
6	chr9:139796499-139796549	HRE	kidney:	n/a
7	chr9:139801358-139801408	HCM	heart:	n/a
8	chr9:139818475-139818525	PFSK-1	brain:	n/a
9	chr9:139812357-139812407	T-47D	breast:	n/a
10	chr9:139802603-139802653	HRE	kidney:	n/a
11	chr9:139802603-139802653	HAEpiC	amniotic membrane:	n/a
12	chr9:139801358-139801408	Hepatocyte	liver:	n/a
13	chr9:139802044-139802094	GM12878	blood:	n/a
14	chr9:139802603-139802653	PrEC	prostate:	n/a
15	chr9:139804179-139804229	Jurkat	blood:	n/a
16	chr9:139796499-139796549	AG04449	skin:	fetal
17	chr9:139801358-139801408	K562	blood:	n/a
18	chr9:139818362-139818412	IMR90	lung:	fetal
19	chr9:139818362-139818412	GM12878	blood:	n/a
20	chr9:139812357-139812407	NHDF-neo	bronchial:	n/a
21	chr9:139801358-139801408	HPAEpiC	pulmonary alveolar:	n/a
22	chr9:139804179-139804229	K562	blood:	n/a
23	chr9:139801238-139801288	HEEpiC	esophagus:	n/a
24	chr9:139818475-139818525	SK-N-SH	brain:	n/a
25	chr9:139796499-139796549	HCPEpiC	choroid plexus:	n/a
26	chr9:139802603-139802653	AoSMC	blood vessel:	n/a
27	chr9:139796499-139796549	SK-N-MC	brain:	n/a
28	chr9:139802044-139802094	NH-A	brain:	n/a
29	chr9:139802044-139802094	U87	brain:	n/a
30	chr9:139803690-139803740	SK-N-SH_RA	brain:	n/a
31	chr9:139802603-139802653	NH-A	brain:	n/a
32	chr9:139804179-139804229	NT2-D1	testis:	n/a
33	chr9:139802044-139802094	HCF	heart:	n/a
34	chr9:139796499-139796549	CMK	blood:	n/a
35	chr9:139801358-139801408	GM19239	blood:	n/a
36	chr9:139818475-139818525	SAEC	small airway:	n/a
37	chr9:139801238-139801288	HCT-116	colon:	n/a
38	chr9:139803690-139803740	NH-A	brain:	n/a
39	chr9:139802603-139802653	HRCEpiC	kidney:	n/a
40	chr9:139801358-139801408	HCF	heart:	n/a
41	chr9:139818362-139818412	HRCEpiC	kidney:	n/a
42	chr9:139818362-139818412	GM06990	blood:	n/a
43	chr9:139796499-139796549	BJ	skin:	n/a
44	chr9:139812357-139812407	MCF-7	breast:	n/a
45	chr9:139802044-139802094	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:139796499-139796549	PANC-1	pancreas:	n/a
47	chr9:139802603-139802653	HUVEC	blood vessel:	n/a
48	chr9:139818475-139818525	A549	lung:	n/a
49	chr9:139812357-139812407	Jurkat	blood:	n/a
50	chr9:139802603-139802653	RPTEC	kidney:	n/a

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:139746427..139750478-chr9:139795672..139798360,3	MCF-7	breast:
2	chr9:139811545..139813653-chr9:139815698..139818461,2	MCF-7	breast:
3	chr9:139794720..139797503-chr9:139940161..139941750,2	MCF-7	breast:
4	chr9:139782933..139784988-chr9:139802726..139805365,2	MCF-7	breast:
5	chr9:139681911..139684166-chr9:139803845..139806276,2	MCF-7	breast:
6	chr9:139741649..139744546-chr9:139793332..139795839,3	MCF-7	breast:
7	chr9:139819161..139823751-chr9:139833746..139841057,7	MCF-7	breast:
8	chr9:139693022..139696090-chr9:139793195..139796394,4	MCF-7	breast:
9	chr9:139747493..139752366-chr9:139799657..139804714,4	MCF-7	breast:
10	chr9:139795540..139797953-chr9:139837525..139839445,2	K562	blood:
11	chr9:139756296..139761812-chr9:139818730..139824212,9	MCF-7	breast:
12	chr9:139792507..139794136-chr9:139799233..139802028,2	K562	blood:
13	chr9:139758856..139761972-chr9:139819074..139822219,3	K562	blood:
14	chr9:139722005..139723538-chr9:139789677..139791201,2	K562	blood:
15	chr9:139769964..139771564-chr9:139789375..139792259,2	K562	blood:
16	chr9:139759277..139762153-chr9:139804558..139806244,2	MCF-7	breast:
17	chr9:139778381..139782500-chr9:139800668..139805077,5	MCF-7	breast:
18	chr9:139802369..139806544-chr9:139806670..139809687,5	MCF-7	breast:
19	chr9:139780710..139784687-chr9:139798050..139801028,3	K562	blood:
20	chr9:139747315..139748990-chr9:139818865..139820541,2	MCF-7	breast:
21	chr9:139804725..139806670-chr9:139887221..139891082,3	MCF-7	breast:
22	chr1:179846415..179847120-chr9:139804027..139804720,2	NB4	blood:
23	chr9:139756813..139762418-chr9:139794047..139799241,10	MCF-7	breast:
24	chr9:139741638..139745300-chr9:139796064..139800031,7	MCF-7	breast:
25	chr9:139742261..139744866-chr9:139815519..139817769,2	MCF-7	breast:
26	chr9:139798690..139801469-chr9:139809287..139811887,2	K562	blood:
27	chr9:139794979..139797624-chr9:139802353..139803934,2	K562	blood:
28	chr9:139796451..139798642-chr9:139816328..139818085,2	MCF-7	breast:
29	chr9:139803131..139806388-chr9:139920851..139924287,3	MCF-7	breast:
30	chr9:139793689..139795313-chr9:140123983..140126673,2	MCF-7	breast:
31	chr9:139774968..139777234-chr9:139789187..139791088,2	K562	blood:
32	chr9:139780016..139781830-chr9:139794857..139797433,2	K562	blood:
33	chr9:139784208..139786582-chr9:139790103..139791762,2	K562	blood:
34	chr9:139771650..139773172-chr9:139817828..139820638,2	MCF-7	breast:
35	chr9:139741435..139745914-chr9:139791926..139799555,14	MCF-7	breast:
36	chr9:139808449..139810149-chr9:139812752..139815022,2	K562	blood:
37	chr9:139808449..139810149-chr9:139812752..139815022,2	K562	blood:
38	chr9:139750451..139752807-chr9:139790265..139791919,2	K562	blood:
39	chr9:139741851..139743877-chr9:139802198..139803831,2	MCF-7	breast:
40	chr9:139685391..139688312-chr9:139795592..139798395,3	MCF-7	breast:
41	chr9:139780979..139783224-chr9:139810786..139814698,4	MCF-7	breast:
42	chr9:139800158..139801677-chr9:139804575..139806256,2	K562	blood:
43	chr9:139794659..139798542-chr9:139819213..139823469,5	MCF-7	breast:
44	chr9:139790926..139800327-chr9:139835284..139840384,15	MCF-7	breast:
45	chr9:139795418..139796997-chr9:139886315..139888091,2	MCF-7	breast:
46	chr9:139791042..139798100-chr9:139837150..139840881,10	MCF-7	breast:
47	chr9:139795672..139799443-chr9:139799856..139804982,9	MCF-7	breast:
48	chr9:139798690..139801469-chr9:139809287..139811887,2	K562	blood:
49	chr9:139800158..139801677-chr9:139804575..139806256,2	K562	blood:
50	chr9:139813084..139815232-chr9:139820953..139823580,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAMDC4-3	chr9:139794255-139794736	expReg_chr9_9714_+

No data

Variant related genes	Relation type
TRAF2	TF binding region
TRAF2	CpG island
ENSG00000188229	chromatin interactions
ENSG00000198569	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000186193	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000266507	chromatin interactions

Extended variants
information (count: 1762 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1762 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2784095	chr9:139789093-139789094	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563805914	chr9:139789124-139789125	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs139439273	chr9:139789185-139789186	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191108831	chr9:139789186-139789187	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559861075	chr9:139789240-139789241	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs528788538	chr9:139789285-139789286	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs114142001	chr9:139789335-139789336	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs77754820	chr9:139789367-139789368	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs561034423	chr9:139789369-139789370	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs377017658	chr9:139789371-139789372	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs529954873	chr9:139789445-139789446	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs549353064	chr9:139789459-139789460	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs569442719	chr9:139789495-139789496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs528954971	chr9:139789525-139789526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs118185801	chr9:139789556-139789557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs565829032	chr9:139789579-139789580	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs546301335	chr9:139789603-139789604	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs534617835	chr9:139789604-139789605	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs566428824	chr9:139789675-139789676	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs146406039	chr9:139789676-139789677	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs182275669	chr9:139789699-139789700	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs79071148	chr9:139789736-139789737	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs144431998	chr9:139789813-139789814	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs117152361	chr9:139789817-139789818	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs188645152	chr9:139789840-139789841	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs146598511	chr9:139789858-139789859	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs573428472	chr9:139789869-139789870	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs545264101	chr9:139789916-139789917	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs193287770	chr9:139789928-139789929	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs11145923	chr9:139789931-139789932	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs531090415	chr9:139789943-139789944	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs543038309	chr9:139789953-139789954	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs562910778	chr9:139789958-139789959	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs11145924	chr9:139789967-139789968	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs528989433	chr9:139790005-139790006	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs549018179	chr9:139790038-139790039	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs77625481	chr9:139790043-139790044	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs77450903	chr9:139790044-139790045	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs565627525	chr9:139790080-139790081	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs17250113	chr9:139790085-139790086	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551579159	chr9:139790169-139790170	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs2811759	chr9:139790204-139790205	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs142304423	chr9:139790206-139790207	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs551900228	chr9:139790213-139790214	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs557397956	chr9:139790241-139790242	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs185086958	chr9:139790261-139790262	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs568601859	chr9:139790284-139790285	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs370556896	chr9:139790285-139790286	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs374530590	chr9:139790303-139790304	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs373660758	chr9:139790336-139790337	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139782000-139790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:139782000-139792600	Weak transcription	Small Intestine	intestine
3	chr9:139782000-139793800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:139782000-139794800	Weak transcription	Aorta	Aorta
5	chr9:139782200-139790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:139782200-139790600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:139782200-139792800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:139782200-139793000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:139782200-139793200	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:139782200-139793200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:139782200-139793600	Weak transcription	Brain Angular Gyrus	brain
12	chr9:139782200-139793800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:139782200-139793800	Weak transcription	Brain Anterior Caudate	brain
14	chr9:139782200-139794400	Weak transcription	Fetal Kidney	kidney
15	chr9:139782200-139794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:139782200-139794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:139782200-139794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:139782200-139794800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:139782200-139794800	Weak transcription	Fetal Heart	heart
20	chr9:139782200-139794800	Weak transcription	HSMMtube	muscle
21	chr9:139782200-139795000	Weak transcription	Brain Substantia Nigra	brain
22	chr9:139782200-139795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:139782200-139795600	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:139782200-139795600	Weak transcription	NHDF-Ad	bronchial
25	chr9:139782200-139796200	Weak transcription	Psoas Muscle	Psoas
26	chr9:139782200-139835800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:139782200-139837000	Weak transcription	Fetal Brain Male	brain
28	chr9:139782400-139793000	Weak transcription	Primary B cells from cord blood	blood
29	chr9:139782400-139793200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:139782400-139793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:139782400-139795400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:139782400-139795600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:139782800-139795000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr9:139783000-139789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:139783000-139790600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:139783000-139791000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:139783000-139793000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:139783000-139793200	Strong transcription	Fetal Intestine Small	intestine
39	chr9:139783000-139823600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:139783200-139789800	Weak transcription	Stomach Mucosa	stomach
41	chr9:139783200-139795200	Weak transcription	HUVEC	blood vessel
42	chr9:139783400-139795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:139784000-139796000	Strong transcription	Fetal Stomach	stomach
44	chr9:139784200-139789600	Strong transcription	Fetal Thymus	thymus
45	chr9:139784200-139790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:139784200-139790000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:139784200-139790000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr9:139784200-139790200	Strong transcription	Fetal Intestine Large	intestine
49	chr9:139784200-139791000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:139784200-139791600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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