Variant report

Variant	nsv894493
Chromosome Location	chr9:139781438-139820856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1299)
CpG islands
(count:915)
Chromatin interactive
region (count:139)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139785139-139785222	K562	blood:	n/a	n/a
2	ARID3A	chr9:139781413-139781581	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:139795759-139796262	HepG2	liver:	n/a	n/a
4	ATF2	chr9:139796219-139797399	GM12878	blood:	n/a	n/a
5	ATF2	chr9:139793565-139794189	GM12878	blood:	n/a	n/a
6	ATF2	chr9:139796801-139797132	GM12878	blood:	n/a	n/a
7	ATF3	chr9:139796786-139797264	A549	lung:	n/a	n/a
8	ATF3	chr9:139796775-139797366	A549	lung:	n/a	n/a
9	ATF3	chr9:139797607-139798157	A549	lung:	n/a	n/a
10	BACH1	chr9:139781132-139781634	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr9:139796813-139797131	GM12878	blood:	n/a	n/a
12	BCL3	chr9:139784097-139784832	GM12878	blood:	n/a	n/a
13	BCL3	chr9:139795421-139797476	A549	lung:	n/a	chr9:139797347-139797356
14	BCL3	chr9:139797597-139798176	A549	lung:	n/a	chr9:139797816-139797829
15	BCL3	chr9:139797618-139798144	A549	lung:	n/a	chr9:139797816-139797829
16	BCL3	chr9:139786048-139786446	GM12878	blood:	n/a	n/a
17	BCL3	chr9:139795624-139797410	A549	lung:	n/a	chr9:139797347-139797356
18	BCL3	chr9:139784099-139784784	GM12878	blood:	n/a	n/a
19	BCL3	chr9:139796862-139797143	GM12878	blood:	n/a	n/a
20	BCLAF1	chr9:139793519-139794276	GM12878	blood:	n/a	n/a
21	BCLAF1	chr9:139796283-139797305	GM12878	blood:	n/a	n/a
22	BCLAF1	chr9:139793643-139794077	GM12878	blood:	n/a	n/a
23	BCLAF1	chr9:139796179-139797280	GM12878	blood:	n/a	n/a
24	BHLHE40	chr9:139795536-139795546	GM12878	blood:	n/a	n/a
25	BHLHE40	chr9:139796177-139797269	GM12878	blood:	n/a	n/a
26	BHLHE40	chr9:139800923-139801103	GM12878	blood:	n/a	n/a
27	BHLHE40	chr9:139796129-139796748	A549	lung:	n/a	n/a
28	BHLHE40	chr9:139793691-139794097	GM12878	blood:	n/a	n/a
29	BRCA1	chr9:139781528-139781533	Hela-S3	cervix:	n/a	n/a
30	CCNT2	chr9:139781178-139781889	K562	blood:	n/a	chr9:139781490-139781499 chr9:139781603-139781612 chr9:139781663-139781672
31	CEBPB	chr9:139806590-139806733	MCF-7	breast:	n/a	n/a
32	CEBPB	chr9:139795490-139795837	A549	lung:	n/a	n/a
33	CEBPB	chr9:139817946-139818046	A549	lung:	n/a	n/a
34	CEBPB	chr9:139796119-139797347	GM12878	blood:	n/a	n/a
35	CEBPB	chr9:139809028-139809108	K562	blood:	n/a	n/a
36	CEBPB	chr9:139817921-139818099	K562	blood:	n/a	n/a
37	CEBPB	chr9:139806673-139806682	IMR90	lung:	n/a	n/a
38	CHD1	chr9:139793607-139793973	GM12878	blood:	n/a	n/a
39	CHD1	chr9:139795813-139797269	GM12878	blood:	n/a	n/a
40	CHD1	chr9:139801621-139801666	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr9:139796192-139797307	GM12878	blood:	n/a	n/a
42	CHD2	chr9:139795744-139795798	GM12878	blood:	n/a	n/a
43	CHD2	chr9:139780408-139781550	Hela-S3	cervix:	n/a	chr9:139780427-139780437
44	CHD2	chr9:139793748-139793969	GM12878	blood:	n/a	n/a
45	CREB1	chr9:139795822-139796181	A549	lung:	n/a	n/a
46	CREB1	chr9:139780218-139781777	HepG2	liver:	n/a	n/a
47	CREB1	chr9:139797668-139798151	A549	lung:	n/a	n/a
48	CREB1	chr9:139796746-139797306	A549	lung:	n/a	n/a
49	CREB1	chr9:139781213-139781553	A549	lung:	n/a	n/a
50	CREB1	chr9:139797631-139798213	A549	lung:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139804179-139804229	AG10803	skin:	n/a
2	chr9:139803690-139803740	CMK	blood:	n/a
3	chr9:139802603-139802653	GM12892	blood:	n/a
4	chr9:139801358-139801408	GM12892	blood:	n/a
5	chr9:139796499-139796549	SK-N-SH	brain:	n/a
6	chr9:139784946-139784996	HUVEC	blood vessel:	n/a
7	chr9:139802603-139802653	SK-N-MC	brain:	n/a
8	chr9:139781526-139781576	AG04449	skin:	fetal
9	chr9:139802044-139802094	SK-N-MC	brain:	n/a
10	chr9:139818362-139818412	HepG2	liver:	n/a
11	chr9:139812357-139812407	NHDF-neo	bronchial:	n/a
12	chr9:139796499-139796549	HAEpiC	amniotic membrane:	n/a
13	chr9:139801358-139801408	T-47D	breast:	n/a
14	chr9:139801358-139801408	AG10803	skin:	n/a
15	chr9:139818475-139818525	AoSMC	blood vessel:	n/a
16	chr9:139802044-139802094	Hela-S3	cervix:	n/a
17	chr9:139801358-139801408	AG09319	gingival:	n/a
18	chr9:139796499-139796549	SK-N-MC	brain:	n/a
19	chr9:139818362-139818412	PANC-1	pancreas:	n/a
20	chr9:139818475-139818525	SAEC	small airway:	n/a
21	chr9:139785318-139785368	T-47D	breast:	n/a
22	chr9:139781526-139781576	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:139812357-139812407	PFSK-1	brain:	n/a
24	chr9:139782892-139782942	BE2_C	brain:	n/a
25	chr9:139801358-139801408	Hepatocyte	liver:	n/a
26	chr9:139818475-139818525	GM19239	blood:	n/a
27	chr9:139818362-139818412	AG04449	skin:	fetal
28	chr9:139796499-139796549	PFSK-1	brain:	n/a
29	chr9:139802044-139802094	HMEC	breast:	n/a
30	chr9:139812357-139812407	HMEC	breast:	n/a
31	chr9:139784946-139784996	PrEC	prostate:	n/a
32	chr9:139818362-139818412	HCM	heart:	n/a
33	chr9:139796499-139796549	HL-60	blood:	n/a
34	chr9:139812357-139812407	HEEpiC	esophagus:	n/a
35	chr9:139785318-139785368	BE2_C	brain:	n/a
36	chr9:139782892-139782942	AG04449	skin:	fetal
37	chr9:139796499-139796549	HCF	heart:	n/a
38	chr9:139818362-139818412	SKMC	muscle:	n/a
39	chr9:139804179-139804229	AG09309	skin:	n/a
40	chr9:139812357-139812407	SKMC	muscle:	n/a
41	chr9:139802603-139802653	GM12891	blood:	n/a
42	chr9:139785318-139785368	HepG2	liver:	n/a
43	chr9:139781630-139781680	Hepatocyte	liver:	n/a
44	chr9:139785318-139785368	PrEC	prostate:	n/a
45	chr9:139782892-139782942	AG09309	skin:	n/a
46	chr9:139802044-139802094	GM19239	blood:	n/a
47	chr9:139784946-139784996	AG09319	gingival:	n/a
48	chr9:139803690-139803740	U87	brain:	n/a
49	chr9:139785318-139785368	SKMC	muscle:	n/a
50	chr9:139802603-139802653	HIPEpiC	eye:	n/a

(count:139 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:139785054..139785841-chr9:139839271..139839781,2	K562	blood:
2	chr9:139756296..139761812-chr9:139818730..139824212,9	MCF-7	breast:
3	chr9:139795947..139797778-chr9:139847021..139848590,2	MCF-7	breast:
4	chr9:139777155..139782891-chr9:139837659..139842394,7	K562	blood:
5	chr9:139789889..139792030-chr9:139794319..139796971,2	MCF-7	breast:
6	chr9:139783203..139785610-chr9:139794854..139797810,2	K562	blood:
7	chr9:139811545..139813653-chr9:139815698..139818461,2	MCF-7	breast:
8	chr9:139792856..139794821-chr9:139800116..139802562,2	MCF-7	breast:
9	chr9:139758856..139761972-chr9:139819074..139822219,3	K562	blood:
10	chr9:139685391..139688312-chr9:139795592..139798395,3	MCF-7	breast:
11	chr9:139784208..139786582-chr9:139790103..139791762,2	K562	blood:
12	chr9:139751861..139761111-chr9:139774593..139782335,19	K562	blood:
13	chr9:139794720..139797503-chr9:139940161..139941750,2	MCF-7	breast:
14	chr9:139804187..139806513-chr9:139808686..139811169,3	MCF-7	breast:
15	chr9:139795672..139799443-chr9:139799856..139804982,9	MCF-7	breast:
16	chr9:139816083..139817704-chr9:139818126..139820060,2	MCF-7	breast:
17	chr9:139819161..139823751-chr9:139833746..139841057,7	MCF-7	breast:
18	chr9:139804771..139806286-chr9:139938116..139940065,2	MCF-7	breast:
19	chr9:139747493..139752366-chr9:139799657..139804714,4	MCF-7	breast:
20	chr9:139811545..139813653-chr9:139815698..139818461,2	MCF-7	breast:
21	chr9:139700801..139702850-chr9:139780217..139783143,3	MCF-7	breast:
22	chr9:139755534..139766605-chr9:139787339..139798569,18	MCF-7	breast:
23	chr9:139620423..139623520-chr9:139779258..139782010,3	K562	blood:
24	chr9:139810560..139812831-chr9:139819083..139821192,2	MCF-7	breast:
25	chr9:139684091..139686797-chr9:139779339..139782193,3	K562	blood:
26	chr9:139794025..139797630-chr9:139809923..139812397,4	MCF-7	breast:
27	chr9:139808449..139810149-chr9:139812752..139815022,2	K562	blood:
28	chr9:139774666..139777552-chr9:139783564..139786381,2	K562	blood:
29	chr9:139819113..139822188-chr9:139837663..139840083,3	MCF-7	breast:
30	chr9:139802317..139806633-chr9:139808185..139811633,4	K562	blood:
31	chr9:139750688..139755458-chr9:139795433..139799837,5	MCF-7	breast:
32	chr1:179846415..179847120-chr9:139804027..139804720,2	NB4	blood:
33	chr9:139780016..139781830-chr9:139794857..139797433,2	K562	blood:
34	chr9:139816554..139819143-chr9:139870621..139872528,2	K562	blood:
35	chr9:139747315..139748990-chr9:139818865..139820541,2	MCF-7	breast:
36	chr9:139794979..139797624-chr9:139802353..139803934,2	K562	blood:
37	chr9:139741851..139743877-chr9:139802198..139803831,2	MCF-7	breast:
38	chr9:139796451..139798642-chr9:139816328..139818085,2	MCF-7	breast:
39	chr9:139778819..139780705-chr9:139810347..139812332,2	MCF-7	breast:
40	chr9:139740288..139765167-chr9:139774067..139789146,84	MCF-7	breast:
41	chr9:139804187..139806513-chr9:139808686..139811169,3	MCF-7	breast:
42	chr9:139807047..139810181-chr9:139815147..139818330,3	MCF-7	breast:
43	chr9:139778379..139782493-chr9:139835538..139841683,7	K562	blood:
44	chr9:139791042..139798100-chr9:139837150..139840881,10	MCF-7	breast:
45	chr9:139750451..139752807-chr9:139790265..139791919,2	K562	blood:
46	chr9:139789514..139792273-chr9:139796475..139799525,3	K562	blood:
47	chr9:139795540..139797953-chr9:139837525..139839445,2	K562	blood:
48	chr9:139759277..139762153-chr9:139804558..139806244,2	MCF-7	breast:
49	chr9:139776995..139778781-chr9:139818911..139821367,2	MCF-7	breast:
50	chr9:139684091..139687398-chr9:139780288..139782193,3	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
ENSG00000180539	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000184925	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000198569	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000186193	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000233016	chromatin interactions

Extended variants
information (count: 2123 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2123 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17243641	chr9:139781438-139781439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs550372184	chr9:139781479-139781480	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs570229592	chr9:139781522-139781523	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs573804612	chr9:139781527-139781528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs536166149	chr9:139781538-139781539	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs59471504	chr9:139781551-139781552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572766683	chr9:139781587-139781588	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs542321133	chr9:139781606-139781607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs533804087	chr9:139781612-139781613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs553465780	chr9:139781622-139781623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs576892285	chr9:139781651-139781652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs545544929	chr9:139781719-139781720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs562710470	chr9:139781734-139781735	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs575782528	chr9:139781735-139781736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs541625008	chr9:139781750-139781751	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs369915579	chr9:139781779-139781780	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs527568446	chr9:139781818-139781819	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs547799776	chr9:139781874-139781875	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs373365182	chr9:139781904-139781905	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs550980730	chr9:139781978-139781979	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs533484265	chr9:139781995-139781996	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs549966875	chr9:139782055-139782056	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs376504892	chr9:139782102-139782103	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs138083032	chr9:139782121-139782122	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs191410023	chr9:139782131-139782132	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs570558017	chr9:139782141-139782142	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs202042290	chr9:139782155-139782156	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs534977632	chr9:139782180-139782181	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs372979237	chr9:139782197-139782198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs76413706	chr9:139782281-139782282	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs570310079	chr9:139782333-139782334	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs183687154	chr9:139782344-139782345	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs187858313	chr9:139782390-139782391	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs373899757	chr9:139782391-139782392	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs545055274	chr9:139782542-139782543	Weak transcription Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs111695006	chr9:139782569-139782570	Weak transcription Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs575726682	chr9:139782574-139782575	Weak transcription Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs201278489	chr9:139782591-139782592	Weak transcription Enhancers Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs370732400	chr9:139782613-139782614	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs541659876	chr9:139782622-139782623	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs199767563	chr9:139782629-139782630	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs555122919	chr9:139782653-139782654	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs572033176	chr9:139782719-139782720	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs113707618	chr9:139782750-139782751	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs540935754	chr9:139782775-139782776	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs371738968	chr9:139782776-139782777	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs11145918	chr9:139782799-139782800	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs112144343	chr9:139782828-139782829	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs552457567	chr9:139782870-139782871	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs564641421	chr9:139782888-139782889	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 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:1948 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139778000-139781600	Weak transcription	Fetal Heart	heart
2	chr9:139779200-139781600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:139779200-139782200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:139779400-139781800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:139779400-139782000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr9:139779600-139781600	Active TSS	Duodenum Mucosa	Duodenum
7	chr9:139779600-139782000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr9:139779800-139781600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr9:139779800-139781600	Active TSS	Fetal Brain Female	brain
10	chr9:139779800-139781800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:139779800-139781800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:139779800-139781800	Active TSS	Rectal Smooth Muscle	rectum
13	chr9:139779800-139781800	Active TSS	HSMM	muscle
14	chr9:139779800-139782000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:139779800-139782000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:139779800-139782000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:139779800-139782000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:139780000-139781600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:139780000-139781600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr9:139780000-139781600	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr9:139780000-139781600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:139780000-139781600	Active TSS	Hela-S3	cervix
23	chr9:139780000-139781600	Active TSS	HepG2	liver
24	chr9:139780000-139782000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:139780000-139782400	Active TSS	K562	blood
26	chr9:139780000-139782600	Active TSS	GM12878-XiMat	blood
27	chr9:139780000-139782800	Active TSS	A549	lung
28	chr9:139780200-139781600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:139780200-139781600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:139780200-139781600	Active TSS	Primary T cells from cord blood	blood
31	chr9:139780200-139781600	Active TSS	Brain Angular Gyrus	brain
32	chr9:139780200-139781600	Active TSS	Brain Anterior Caudate	brain
33	chr9:139780200-139781600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr9:139780200-139781600	Active TSS	Brain Substantia Nigra	brain
35	chr9:139780200-139781600	Active TSS	Gastric	stomach
36	chr9:139780200-139781600	Active TSS	Left Ventricle	heart
37	chr9:139780200-139781600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr9:139780200-139781600	Active TSS	Psoas Muscle	Psoas
39	chr9:139780200-139781600	Active TSS	Dnd41	blood
40	chr9:139780200-139781600	Active TSS	NHEK	skin
41	chr9:139780200-139781800	Active TSS	Colon Smooth Muscle	Colon
42	chr9:139780200-139781800	Active TSS	Right Atrium	heart
43	chr9:139780200-139781800	Active TSS	NH-A	brain
44	chr9:139780200-139781800	Active TSS	NHLF	lung
45	chr9:139780200-139782000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:139780200-139782000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:139780200-139782000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:139780200-139782000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:139780200-139782000	Active TSS	Fetal Kidney	kidney
50	chr9:139780200-139782200	Active TSS	Pancreatic Islets	Pancreatic Islet

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