Variant report

Variant	nsv890925
Chromosome Location	chr8:55005489-55052148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1375)
CpG islands
(count:1892)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:55014439-55014825	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:55006625-55006885	K562	blood:	n/a	n/a
3	ARID3A	chr8:55018717-55019091	K562	blood:	n/a	n/a
4	ARID3A	chr8:55012852-55014180	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:55014700-55014793	K562	blood:	n/a	n/a
6	ARID3A	chr8:55047091-55048063	K562	blood:	n/a	n/a
7	ARID3A	chr8:55012881-55013984	K562	blood:	n/a	n/a
8	ARID3A	chr8:55051802-55052050	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:55047027-55048086	HepG2	liver:	n/a	n/a
10	ATF1	chr8:55018643-55019258	K562	blood:	n/a	n/a
11	ATF2	chr8:55047245-55047812	GM12878	blood:	n/a	n/a
12	ATF2	chr8:55014498-55014923	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr8:55047241-55047988	GM12878	blood:	n/a	n/a
14	ATF3	chr8:55047665-55047916	GM12878	blood:	n/a	n/a
15	ATF3	chr8:55046992-55047793	A549	lung:	n/a	chr8:55047475-55047488
16	ATF3	chr8:55014571-55014784	K562	blood:	n/a	n/a
17	ATF3	chr8:55047633-55047911	K562	blood:	n/a	n/a
18	ATF3	chr8:55047391-55047965	HepG2	liver:	n/a	chr8:55047475-55047488
19	ATF3	chr8:55047593-55047984	HepG2	liver:	n/a	n/a
20	ATF3	chr8:55047578-55047950	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr8:55047505-55048029	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr8:55047178-55048094	A549	lung:	n/a	chr8:55047475-55047488
23	ATF3	chr8:55047447-55048025	GM12878	blood:	n/a	chr8:55047475-55047488
24	BACH1	chr8:55013899-55014674	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr8:55047126-55047817	GM12878	blood:	n/a	n/a
26	BCL3	chr8:55047101-55048006	A549	lung:	n/a	chr8:55047732-55047745 chr8:55047735-55047748
27	BCL3	chr8:55047142-55047945	A549	lung:	n/a	chr8:55047732-55047745 chr8:55047735-55047748
28	BCLAF1	chr8:55014129-55014597	GM12878	blood:	n/a	chr8:55014572-55014581
29	BCLAF1	chr8:55047135-55047988	GM12878	blood:	n/a	chr8:55047732-55047745 chr8:55047735-55047748
30	BCLAF1	chr8:55047138-55047849	GM12878	blood:	n/a	chr8:55047732-55047745 chr8:55047735-55047748
31	BHLHE40	chr8:55013215-55015126	K562	blood:	n/a	chr8:55014627-55014643 chr8:55014526-55014542
32	BHLHE40	chr8:55047094-55048067	K562	blood:	n/a	n/a
33	BHLHE40	chr8:55013765-55013986	GM12878	blood:	n/a	n/a
34	BHLHE40	chr8:55014229-55014895	GM12878	blood:	n/a	chr8:55014627-55014643 chr8:55014526-55014542
35	BHLHE40	chr8:55014303-55014813	HepG2	liver:	n/a	chr8:55014627-55014643 chr8:55014526-55014542
36	BHLHE40	chr8:55018810-55019419	K562	blood:	n/a	n/a
37	BHLHE40	chr8:55047243-55048023	GM12878	blood:	n/a	n/a
38	BHLHE40	chr8:55012805-55012905	K562	blood:	n/a	n/a
39	BRCA1	chr8:55014673-55014700	HepG2	liver:	n/a	n/a
40	BRCA1	chr8:55014723-55014734	GM12878	blood:	n/a	n/a
41	BRCA1	chr8:55047554-55047950	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr8:55047080-55047980	K562	blood:	n/a	chr8:55047437-55047448
43	CBX3	chr8:55014325-55015500	K562	blood:	n/a	n/a
44	CCNT2	chr8:55013643-55014772	K562	blood:	n/a	n/a
45	CCNT2	chr8:55012910-55013110	K562	blood:	n/a	n/a
46	CCNT2	chr8:55047203-55048024	K562	blood:	n/a	chr8:55047752-55047761
47	CEBPB	chr8:55024869-55025069	A549	lung:	n/a	n/a
48	CEBPB	chr8:55014250-55014853	IMR90	lung:	n/a	chr8:55014622-55014630
49	CEBPB	chr8:55027569-55027855	HepG2	liver:	n/a	chr8:55027732-55027743 chr8:55027679-55027690
50	CEBPB	chr8:55047270-55047540	K562	blood:	n/a	chr8:55047415-55047428 chr8:55047415-55047428

(count:1892 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:55014643-55014693	HEEpiC	esophagus:	n/a
2	chr8:55014643-55014693	HEEpiC	esophagus:	n/a
3	chr8:55047791-55047841	HRPEpiC	eye:	n/a
4	chr8:55014888-55014938	K562	blood:	n/a
5	chr8:55047599-55047649	GM12892	blood:	n/a
6	chr8:55014643-55014693	Caco-2	colon:	n/a
7	chr8:55050939-55050989	SK-N-SH_RA	brain:	n/a
8	chr8:55016751-55016801	BJ	skin:	n/a
9	chr8:55016879-55016929	NHDF-neo	bronchial:	n/a
10	chr8:55047623-55047673	NT2-D1	testis:	n/a
11	chr8:55047683-55047733	SK-N-SH_RA	brain:	n/a
12	chr8:55047838-55047888	AG09309	skin:	n/a
13	chr8:55047225-55047275	LNCaP	prostate:	n/a
14	chr8:55014643-55014693	Jurkat	blood:	n/a
15	chr8:55016930-55016980	AG10803	skin:	n/a
16	chr8:55011819-55011869	PrEC	prostate:	n/a
17	chr8:55047904-55047954	HEEpiC	esophagus:	n/a
18	chr8:55047225-55047275	HL-60	blood:	n/a
19	chr8:55047599-55047649	A549	lung:	n/a
20	chr8:55048378-55048428	SKMC	muscle:	n/a
21	chr8:55014671-55014721	AG09319	gingival:	n/a
22	chr8:55014847-55014897	NHDF-neo	bronchial:	n/a
23	chr8:55037773-55037823	PFSK-1	brain:	n/a
24	chr8:55047255-55047305	NH-A	brain:	n/a
25	chr8:55014643-55014693	GM19239	blood:	n/a
26	chr8:55047255-55047305	HCF	heart:	n/a
27	chr8:55014888-55014938	HEEpiC	esophagus:	n/a
28	chr8:55037773-55037823	Hepatocyte	liver:	n/a
29	chr8:55014040-55014090	BJ	skin:	n/a
30	chr8:55048378-55048428	HRCEpiC	kidney:	n/a
31	chr8:55047838-55047888	BE2_C	brain:	n/a
32	chr8:55047757-55047807	AG09319	gingival:	n/a
33	chr8:55014888-55014938	AoSMC	blood vessel:	n/a
34	chr8:55047599-55047649	ProgFib	skin:	n/a
35	chr8:55045121-55045171	AoSMC	blood vessel:	n/a
36	chr8:55048378-55048428	AG09319	gingival:	n/a
37	chr8:55014772-55014822	HNPCEpiC	eye:	n/a
38	chr8:55048378-55048428	AG09309	skin:	n/a
39	chr8:55047904-55047954	BJ	skin:	n/a
40	chr8:55014040-55014090	ProgFib	skin:	n/a
41	chr8:55050939-55050989	PrEC	prostate:	n/a
42	chr8:55014641-55014691	HRCEpiC	kidney:	n/a
43	chr8:55014643-55014693	PFSK-1	brain:	n/a
44	chr8:55047757-55047807	ovcar-3	ovarian:	n/a
45	chr8:55037773-55037823	NB4	blood:	n/a
46	chr8:55014388-55014438	Caco-2	colon:	n/a
47	chr8:55047791-55047841	AG04449	skin:	fetal
48	chr8:55050939-55050989	RPTEC	kidney:	n/a
49	chr8:55011819-55011869	HMEC	breast:	n/a
50	chr8:55047972-55048022	GM12892	blood:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:55012818..55014822-chr8:55028149..55031655,3	MCF-7	breast:
2	chr8:54934501..54937318-chr8:55011753..55013857,2	K562	blood:
3	chr8:55010890..55013599-chr8:55056433..55059069,2	MCF-7	breast:
4	chr8:55051494..55052804-chr8:55078053..55079182,7	MCF-7	breast:
5	chr8:55022281..55024042-chr8:55030500..55032091,2	K562	blood:
6	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
7	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
8	chr8:55051193..55054148-chr8:55065664..55067293,2	K562	blood:
9	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
10	chr8:55011657..55013589-chr8:55059186..55062088,2	K562	blood:
11	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
12	chr8:55051550..55052373-chr8:55078712..55079380,2	MCF-7	breast:
13	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
14	chr8:54932275..54935937-chr8:55049392..55052839,3	MCF-7	breast:
15	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
16	chr8:55047433..55051176-chr8:55051187..55056877,7	K562	blood:
17	chr8:55003346..55005748-chr8:55012113..55014512,3	MCF-7	breast:
18	chr8:55013237..55015721-chr8:55016855..55019742,2	MCF-7	breast:
19	chr8:55009975..55010673-chr8:55078381..55079050,2	MCF-7	breast:
20	chr8:55008979..55011480-chr8:55012604..55016082,4	K562	blood:
21	chr8:54924177..54926194-chr8:55016876..55019206,2	K562	blood:
22	chr8:55005836..55007387-chr8:55012760..55014510,2	MCF-7	breast:
23	chr8:55007468..55010231-chr8:55019347..55021686,2	K562	blood:
24	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:
25	chr8:55039661..55044382-chr8:55045790..55048984,5	K562	blood:
26	chr8:55040333..55042140-chr8:55044755..55047552,2	K562	blood:
27	chr8:55014583..55016959-chr8:55047205..55048947,2	K562	blood:
28	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
29	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:
30	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
31	chr8:9412503..9413441-chr8:55013581..55014482,2	Hela-S3	cervix:
32	chr8:55011828..55014733-chr8:55017986..55020090,2	K562	blood:
33	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
34	chr8:55007468..55010231-chr8:55019347..55021686,2	K562	blood:
35	chr8:55045967..55049288-chr8:55050352..55053333,3	MCF-7	breast:
36	chr8:54934843..54936668-chr8:55008922..55011513,2	K562	blood:
37	chr8:55006677..55009466-chr8:55047209..55049239,2	MCF-7	breast:
38	chr8:54792772..54795313-chr8:55047110..55049629,2	MCF-7	breast:
39	chr8:55021464..55024057-chr8:55046548..55048568,2	MCF-7	breast:
40	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
41	chr20:45946400..45948172-chr8:55014333..55016301,2	MCF-7	breast:
42	chr8:55040333..55042140-chr8:55044755..55047552,2	K562	blood:
43	chr1:43147767..43148594-chr8:55013821..55014667,2	HCT-116	colon:
44	chr8:55017880..55020655-chr8:55046123..55048427,3	MCF-7	breast:
45	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
46	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:
47	chr8:55011828..55016126-chr8:55017682..55020090,4	K562	blood:
48	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
49	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:
50	chr8:55012036..55017270-chr8:55017780..55022488,6	MCF-7	breast:

No data

Variant related genes	Relation type
LYPLA1	TF binding region
MRPL15	TF binding region
LYPLA1	CpG island
MRPL15	CpG island
ENSG00000187735	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000065978	chromatin interactions
ENSG00000072571	chromatin interactions
ENSG00000137547	chromatin interactions
ENSG00000170584	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000120992	chromatin interactions
ENSG00000147509	chromatin interactions
ENSG00000251835	chromatin interactions
ENSG00000173273	chromatin interactions

Extended variants
information (count: 1326 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191539664	chr8:55005493-55005494	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577443907	chr8:55005543-55005544	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs202173468	chr8:55005601-55005602	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368083999	chr8:55005659-55005660	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377318702	chr8:55005660-55005661	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529684754	chr8:55005685-55005686	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546225896	chr8:55005769-55005770	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79409691	chr8:55005815-55005816	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563089918	chr8:55005825-55005826	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185580146	chr8:55005874-55005875	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542446554	chr8:55005875-55005876	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372946425	chr8:55005996-55005997	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531841223	chr8:55006038-55006039	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560940260	chr8:55006047-55006048	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529827824	chr8:55006080-55006081	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190458328	chr8:55006116-55006117	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547331442	chr8:55006128-55006129	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181641075	chr8:55006178-55006179	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566370346	chr8:55006182-55006183	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532431689	chr8:55006188-55006189	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139924752	chr8:55006214-55006215	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370120818	chr8:55006226-55006227	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186778877	chr8:55006236-55006237	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143101899	chr8:55006244-55006245	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200851896	chr8:55006246-55006247	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189131690	chr8:55006353-55006354	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537600772	chr8:55006404-55006405	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181130162	chr8:55006417-55006418	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554364011	chr8:55006500-55006501	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536075736	chr8:55006517-55006518	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568201321	chr8:55006524-55006525	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185574054	chr8:55006532-55006533	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554133606	chr8:55006579-55006580	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76508259	chr8:55006596-55006597	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539833065	chr8:55006623-55006624	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556850920	chr8:55006633-55006634	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576832604	chr8:55006635-55006636	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542405529	chr8:55006645-55006646	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116284735	chr8:55006661-55006662	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574450080	chr8:55006705-55006706	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539998106	chr8:55006710-55006711	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560084084	chr8:55006718-55006719	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531971811	chr8:55006721-55006722	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552151943	chr8:55006726-55006727	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562413284	chr8:55006734-55006735	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531535174	chr8:55006736-55006737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76391589	chr8:55006866-55006867	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113519454	chr8:55007034-55007035	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567961925	chr8:55007106-55007107	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534291337	chr8:55007127-55007128	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Adenocarcinoma	20824076	CNVD

Chromatin state (count:1539 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
4	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:54992000-55006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:54995600-55007000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:54996000-55008800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
11	chr8:54999000-55005800	ZNF genes & repeats	Dnd41	blood
12	chr8:54999000-55006200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:54999200-55006400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
15	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
16	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:55000000-55006800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:55000000-55006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:55000000-55008200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:55000200-55005600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:55000200-55005600	Weak transcription	Right Ventricle	heart
23	chr8:55000200-55005600	Weak transcription	HSMM	muscle
24	chr8:55000200-55005800	Weak transcription	Hela-S3	cervix
25	chr8:55000200-55005800	Weak transcription	HepG2	liver
26	chr8:55000200-55006800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:55000200-55006800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:55000200-55009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:55000200-55009800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:55000200-55010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:55000200-55010400	Weak transcription	Lung	lung
32	chr8:55000200-55011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:55000200-55011400	Weak transcription	NH-A	brain
34	chr8:55000200-55011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:55000200-55011800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:55000200-55012600	Weak transcription	Osteobl	bone
37	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
42	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
43	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:55000200-55013400	Weak transcription	Ovary	ovary
45	chr8:55000400-55005600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:55000400-55007000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:55000400-55009800	Weak transcription	Liver	Liver
48	chr8:55000400-55012600	Weak transcription	NHDF-Ad	bronchial
49	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
50	chr8:55000400-55012800	Weak transcription	NHLF	lung

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