Variant report

Variant	nsv466540
Chromosome Location	chr9:117045801-117103973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1775)
CpG islands
(count:610)
Chromatin interactive
region (count:65)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:117091599-117091832	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:117084358-117084903	HepG2	liver:	n/a	n/a
3	ATF1	chr9:117080165-117080332	K562	blood:	n/a	n/a
4	ATF2	chr9:117050503-117050900	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr9:117050431-117050865	A549	lung:	n/a	n/a
6	ATF3	chr9:117080162-117080453	K562	blood:	n/a	n/a
7	BACH1	chr9:117069753-117069785	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr9:117047663-117048091	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr9:117050529-117050848	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr9:117050371-117050932	A549	lung:	n/a	chr9:117050674-117050683
11	BCL3	chr9:117080178-117080438	GM12878	blood:	n/a	n/a
12	BCL3	chr9:117080117-117080458	GM12878	blood:	n/a	n/a
13	BCL3	chr9:117094659-117095275	GM12878	blood:	n/a	n/a
14	BCL3	chr9:117094739-117094968	GM12878	blood:	n/a	n/a
15	BCL3	chr9:117050379-117050786	A549	lung:	n/a	chr9:117050674-117050683
16	BHLHE40	chr9:117068161-117068341	GM12878	blood:	n/a	n/a
17	BHLHE40	chr9:117047758-117047982	K562	blood:	n/a	chr9:117047959-117047975
18	BHLHE40	chr9:117084718-117085030	HepG2	liver:	n/a	n/a
19	BHLHE40	chr9:117102654-117102933	K562	blood:	n/a	chr9:117102783-117102792 chr9:117102776-117102797 chr9:117102782-117102791 chr9:117102782-117102791
20	BHLHE40	chr9:117068003-117068369	K562	blood:	n/a	n/a
21	BHLHE40	chr9:117068113-117068430	HepG2	liver:	n/a	n/a
22	BHLHE40	chr9:117053342-117053611	K562	blood:	n/a	n/a
23	BHLHE40	chr9:117091885-117092313	HepG2	liver:	n/a	n/a
24	BHLHE40	chr9:117085114-117085542	HepG2	liver:	n/a	n/a
25	BHLHE40	chr9:117101399-117101695	K562	blood:	n/a	n/a
26	BRCA1	chr9:117101433-117101581	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr9:117053310-117053516	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr9:117068164-117068380	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr9:117068353-117068553	HepG2	liver:	n/a	n/a
30	CBX3	chr9:117096067-117096511	K562	blood:	n/a	n/a
31	CBX3	chr9:117089360-117089769	K562	blood:	n/a	n/a
32	CCNT2	chr9:117098534-117098959	K562	blood:	n/a	n/a
33	CEBPB	chr9:117080097-117080535	Hela-S3	cervix:	n/a	chr9:117080273-117080284
34	CEBPB	chr9:117084691-117085065	HepG2	liver:	n/a	n/a
35	CEBPB	chr9:117103181-117103338	HepG2	liver:	n/a	chr9:117103287-117103298
36	CEBPB	chr9:117077405-117077763	HepG2	liver:	n/a	chr9:117077571-117077582 chr9:117077573-117077582 chr9:117077571-117077584
37	CEBPB	chr9:117078053-117078318	HepG2	liver:	n/a	n/a
38	CEBPB	chr9:117077520-117077679	IMR90	lung:	n/a	chr9:117077571-117077582 chr9:117077573-117077582 chr9:117077571-117077584
39	CEBPB	chr9:117091524-117091772	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:117091269-117091840	HepG2	liver:	n/a	n/a
41	CEBPB	chr9:117080205-117080383	K562	blood:	n/a	chr9:117080273-117080284
42	CEBPB	chr9:117080076-117080472	K562	blood:	n/a	chr9:117080273-117080284
43	CEBPB	chr9:117080214-117080319	HepG2	liver:	n/a	chr9:117080273-117080284
44	CEBPB	chr9:117084795-117084978	HepG2	liver:	n/a	n/a
45	CEBPB	chr9:117080115-117080579	A549	lung:	n/a	chr9:117080273-117080284
46	CEBPB	chr9:117070321-117070327	IMR90	lung:	n/a	n/a
47	CEBPB	chr9:117080082-117080511	IMR90	lung:	n/a	chr9:117080273-117080284
48	CEBPB	chr9:117091567-117091727	HepG2	liver:	n/a	n/a
49	CEBPB	chr9:117084769-117085000	HepG2	liver:	n/a	n/a
50	CEBPB	chr9:117050569-117050707	A549	lung:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117093052-117093102	NHBE	bronchial:	n/a
2	chr9:117068159-117068209	NHDF-neo	bronchial:	n/a
3	chr9:117096902-117096952	SK-N-SH_RA	brain:	n/a
4	chr9:117068532-117068582	PrEC	prostate:	n/a
5	chr9:117090924-117090974	H1-hESC	embryonic stem cell:	embryo
6	chr9:117068532-117068582	GM19239	blood:	n/a
7	chr9:117096902-117096952	HL-60	blood:	n/a
8	chr9:117084602-117084652	HAEpiC	amniotic membrane:	n/a
9	chr9:117068361-117068411	PrEC	prostate:	n/a
10	chr9:117068159-117068209	SKMC	muscle:	n/a
11	chr9:117090924-117090974	BE2_C	brain:	n/a
12	chr9:117085966-117086016	AG04450	lung:	fetal
13	chr9:117093175-117093225	Jurkat	blood:	n/a
14	chr9:117096902-117096952	NHBE	bronchial:	n/a
15	chr9:117093052-117093102	AoSMC	blood vessel:	n/a
16	chr9:117093175-117093225	CMK	blood:	n/a
17	chr9:117047688-117047738	MCF10A-Er-Src	breast:	n/a
18	chr9:117085966-117086016	SK-N-MC	brain:	n/a
19	chr9:117068532-117068582	Hepatocyte	liver:	n/a
20	chr9:117047688-117047738	HEEpiC	esophagus:	n/a
21	chr9:117068361-117068411	NHBE	bronchial:	n/a
22	chr9:117090924-117090974	AG09319	gingival:	n/a
23	chr9:117068159-117068209	NHBE	bronchial:	n/a
24	chr9:117085966-117086016	AG10803	skin:	n/a
25	chr9:117096902-117096952	AG04449	skin:	fetal
26	chr9:117093052-117093102	HRCEpiC	kidney:	n/a
27	chr9:117047688-117047738	GM12878	blood:	n/a
28	chr9:117084602-117084652	NHDF-neo	bronchial:	n/a
29	chr9:117047688-117047738	PrEC	prostate:	n/a
30	chr9:117084602-117084652	CMK	blood:	n/a
31	chr9:117093052-117093102	GM06990	blood:	n/a
32	chr9:117093052-117093102	HUVEC	blood vessel:	n/a
33	chr9:117093175-117093225	U87	brain:	n/a
34	chr9:117085966-117086016	AoSMC	blood vessel:	n/a
35	chr9:117093052-117093102	SK-N-SH	brain:	n/a
36	chr9:117093175-117093225	SK-N-MC	brain:	n/a
37	chr9:117090924-117090974	LNCaP	prostate:	n/a
38	chr9:117084602-117084652	BE2_C	brain:	n/a
39	chr9:117093175-117093225	ECC-1	luminal epithelium:	n/a
40	chr9:117096902-117096952	HUVEC	blood vessel:	n/a
41	chr9:117090924-117090974	U87	brain:	n/a
42	chr9:117096902-117096952	MCF-7	breast:	n/a
43	chr9:117068532-117068582	HMEC	breast:	n/a
44	chr9:117093052-117093102	PANC-1	pancreas:	n/a
45	chr9:117085966-117086016	NHDF-neo	bronchial:	n/a
46	chr9:117093175-117093225	MCF-7	breast:	n/a
47	chr9:117068361-117068411	HAEpiC	amniotic membrane:	n/a
48	chr9:117068532-117068582	AG09309	skin:	n/a
49	chr9:117085966-117086016	HPAEpiC	pulmonary alveolar:	n/a
50	chr9:117090924-117090974	ProgFib	skin:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:117102977..117106643-chr9:117157703..117161882,4	K562	blood:
2	chr9:117060520..117062937-chr9:117065825..117069499,4	MCF-7	breast:
3	chr9:116870303..116871233-chr9:117051501..117052146,3	MCF-7	breast:
4	chr9:117102552..117105205-chr9:117109835..117112398,2	K562	blood:
5	chr9:116916702..116920015-chr9:117048012..117051881,4	K562	blood:
6	chr9:117103574..117106536-chr9:117108537..117110176,2	MCF-7	breast:
7	chr9:117052909..117055629-chr9:117066648..117068962,2	MCF-7	breast:
8	chr9:117086796..117090916-chr9:117093612..117097049,4	K562	blood:
9	chr9:117101273..117102044-chr9:117168084..117168731,2	MCF-7	breast:
10	chr9:116916957..116918241-chr9:117052265..117054078,11	MCF-7	breast:
11	chr9:117098997..117104975-chr9:117159099..117165483,7	MCF-7	breast:
12	chr9:116917474..116919144-chr9:117052623..117055969,3	MCF-7	breast:
13	chr9:117065267..117067834-chr9:117158317..117161019,2	MCF-7	breast:
14	chr9:116869934..116871127-chr9:117052704..117054035,13	MCF-7	breast:
15	chr9:116869895..116870973-chr9:117052879..117053661,10	MCF-7	breast:
16	chr9:117048708..117051555-chr9:117052234..117055024,3	MCF-7	breast:
17	chr9:117103384..117106313-chr9:117156764..117158345,2	MCF-7	breast:
18	chr9:116843600..116846294-chr9:117069884..117072218,2	MCF-7	breast:
19	chr9:117033926..117037136-chr9:117049130..117052892,3	MCF-7	breast:
20	chr9:117101066..117102053-chr9:117167040..117168559,4	MCF-7	breast:
21	chr9:116869916..116870857-chr9:117067860..117068426,2	K562	blood:
22	chr9:116917422..116918284-chr9:117067805..117069207,4	K562	blood:
23	chr9:116774861..116777762-chr9:117046301..117047948,2	MCF-7	breast:
24	chr9:117073544..117075822-chr9:117160051..117162438,2	K562	blood:
25	chr9:116569447..116570300-chr9:117052628..117053509,2	MCF-7	breast:
26	chr9:117101442..117101963-chr9:117167919..117168430,2	K562	blood:
27	chr9:117060520..117062937-chr9:117065825..117069499,4	MCF-7	breast:
28	chr9:117101434..117102012-chr9:117415923..117416790,3	K562	blood:
29	chr9:117053392..117053933-chr9:117067853..117068400,2	K562	blood:
30	chr9:116917252..116918213-chr9:117052941..117053917,4	K562	blood:
31	chr9:117053392..117053933-chr9:117067853..117068400,2	K562	blood:
32	chr9:116917096..116918203-chr9:117052981..117053630,5	MCF-7	breast:
33	chr9:117101580..117103166-chr9:117103266..117105308,2	MCF-7	breast:
34	chr9:117043393..117045568-chr9:117050834..117052747,2	K562	blood:
35	chr9:117099812..117101508-chr9:117113315..117115822,2	MCF-7	breast:
36	chr9:117102242..117104116-chr9:117108408..117110413,2	K562	blood:
37	chr9:117062219..117064212-chr9:117064334..117066027,2	MCF-7	breast:
38	chr9:117052946..117055732-chr9:117060999..117063186,2	K562	blood:
39	chr9:116869923..116871115-chr9:117053002..117053726,3	K562	blood:
40	chr9:117101149..117102026-chr9:117196751..117197558,2	MCF-7	breast:
41	chr9:116844851..116845417-chr9:117067843..117068379,2	MCF-7	breast:
42	chr9:117045835..117047585-chr9:117049040..117050988,2	MCF-7	breast:
43	chr9:117045835..117047585-chr9:117049040..117050988,2	MCF-7	breast:
44	chr9:117101580..117103166-chr9:117103266..117105308,2	MCF-7	breast:
45	chr9:117101198..117101979-chr9:117111299..117111941,2	MCF-7	breast:
46	chr9:117101454..117102367-chr9:117485164..117485846,2	K562	blood:
47	chr9:116844450..116845667-chr9:117052850..117054752,10	K562	blood:
48	chr9:116844247..116845566-chr9:117052560..117054100,7	MCF-7	breast:
49	chr9:117099107..117102809-chr9:117105264..117108943,3	K562	blood:
50	chr9:116869935..116870873-chr9:117052125..117052932,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORM1-1	chr9:117063352-117063405	NONHSAT134374
2	lnc-ORM1-1	chr9:117062642-117062967	NONHSAT134374
3	lnc-ORM1-1	chr9:117063564-117063599	NONHSAT134374
4	lnc-ORM1-1	chr9:117063725-117063822	NONHSAT134374

No data

Variant related genes	Relation type
ORM2	TF binding region
COL27A1	TF binding region
ORM1	TF binding region
ORM2	CpG island
COL27A1	CpG island
ORM1	CpG island
ENSG00000230054	chromatin interactions
ENSG00000196739	chromatin interactions
ENSG00000235119	chromatin interactions
ENSG00000106948	chromatin interactions

Extended variants
information (count: 2840 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2840 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112386127	chr9:117045801-117045802	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551955284	chr9:117045860-117045861	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571710878	chr9:117045900-117045901	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537565870	chr9:117045906-117045907	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374185403	chr9:117045921-117045922	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377623928	chr9:117045940-117045941	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375818617	chr9:117045948-117045949	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528914754	chr9:117045968-117045969	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370181634	chr9:117045983-117045984	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113772516	chr9:117045997-117045998	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201438078	chr9:117046002-117046003	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536227229	chr9:117046023-117046024	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs377083574	chr9:117046039-117046040	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369109692	chr9:117046051-117046052	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372854613	chr9:117046062-117046063	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150296997	chr9:117046065-117046066	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377466100	chr9:117046070-117046071	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370342486	chr9:117046071-117046072	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1565503	chr9:117046072-117046073	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374960780	chr9:117046073-117046074	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367988627	chr9:117046081-117046082	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375227113	chr9:117046102-117046103	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572006514	chr9:117046111-117046112	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1565502	chr9:117046170-117046171	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550352500	chr9:117046205-117046206	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137998538	chr9:117046258-117046259	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543534592	chr9:117046259-117046260	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563357839	chr9:117046260-117046261	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528938885	chr9:117046279-117046280	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374537660	chr9:117046329-117046330	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372331397	chr9:117046360-117046361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35169188	chr9:117046365-117046366	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559346708	chr9:117046406-117046407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528806474	chr9:117046409-117046410	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201073704	chr9:117046427-117046428	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551754984	chr9:117046457-117046458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527885272	chr9:117046459-117046460	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571830052	chr9:117046476-117046477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114407519	chr9:117046561-117046562	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149480300	chr9:117046600-117046601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567410640	chr9:117046601-117046602	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145837394	chr9:117046626-117046627	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376957556	chr9:117046643-117046644	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570909500	chr9:117046651-117046652	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62555444	chr9:117046657-117046658	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183413414	chr9:117046705-117046706	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187532801	chr9:117046744-117046745	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201937060	chr9:117046745-117046746	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557746325	chr9:117046756-117046757	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138493105	chr9:117046811-117046812	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116973400-117047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:117005000-117050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:117012400-117054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:117013400-117067800	Weak transcription	Right Ventricle	heart
5	chr9:117016200-117047400	Weak transcription	Fetal Kidney	kidney
6	chr9:117026600-117057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:117026800-117050000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:117027600-117047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:117027800-117056800	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:117028200-117077000	Weak transcription	Gastric	stomach
11	chr9:117033400-117046000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:117033800-117047000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:117038200-117052800	Weak transcription	Stomach Mucosa	stomach
14	chr9:117039400-117049400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:117039800-117047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:117039800-117047600	Weak transcription	Adipose Nuclei	Adipose
17	chr9:117039800-117076600	Weak transcription	Lung	lung
18	chr9:117040200-117047600	Weak transcription	HUVEC	blood vessel
19	chr9:117040200-117053000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:117041600-117046800	Weak transcription	Pancreas	Pancrea
21	chr9:117041600-117047600	Weak transcription	Esophagus	oesophagus
22	chr9:117041800-117046600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:117041800-117061800	Weak transcription	Aorta	Aorta
24	chr9:117042000-117050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:117042800-117046200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:117043000-117046000	Weak transcription	Spleen	Spleen
27	chr9:117043000-117046600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:117043000-117047600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:117043000-117051000	Strong transcription	HepG2	liver
30	chr9:117043200-117051800	Strong transcription	Liver	Liver
31	chr9:117043400-117051800	Genic enhancers	Fetal Muscle Leg	muscle
32	chr9:117043400-117053800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:117043600-117046200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:117043600-117047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:117043600-117047600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:117043800-117046800	Enhancers	A549	lung
37	chr9:117043800-117053800	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr9:117043800-117074800	Strong transcription	Fetal Intestine Large	intestine
39	chr9:117043800-117075200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:117044000-117046000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:117044000-117046000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:117044200-117046400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:117044200-117047000	Weak transcription	Fetal Lung	lung
44	chr9:117044200-117047600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:117044200-117057600	Weak transcription	Right Atrium	heart
46	chr9:117044400-117046800	Enhancers	HMEC	breast
47	chr9:117044400-117046800	Enhancers	NHEK	skin
48	chr9:117044400-117057000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:117044600-117046000	Enhancers	NH-A	brain
50	chr9:117044800-117046000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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