Variant report

Variant	nsv898617
Chromosome Location	chr12:4715082-4768619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:559)
CpG islands
(count:976)
Chromatin interactive
region (count:35)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:4757430-4758315	K562	blood:	n/a	n/a
2	ATF2	chr12:4757972-4758620	GM12878	blood:	n/a	n/a
3	ATF2	chr12:4757999-4758491	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:4758070-4758634	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:4739499-4739759	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr12:4757913-4758630	GM12878	blood:	n/a	chr12:4758114-4758123
7	BCLAF1	chr12:4757941-4758505	GM12878	blood:	n/a	chr12:4758114-4758123
8	BHLHE40	chr12:4757362-4757603	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:4757761-4758471	K562	blood:	n/a	n/a
10	BHLHE40	chr12:4758013-4758504	GM12878	blood:	n/a	n/a
11	BRCA1	chr12:4757522-4758889	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr12:4737530-4737649	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr12:4757956-4758363	K562	blood:	n/a	n/a
14	CEBPB	chr12:4759955-4760222	HepG2	liver:	n/a	chr12:4760126-4760137 chr12:4760126-4760139 chr12:4760127-4760138
15	CEBPB	chr12:4759436-4759663	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:4758026-4758412	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr12:4734656-4734801	HepG2	liver:	n/a	chr12:4734734-4734745
18	CEBPB	chr12:4760017-4760288	K562	blood:	n/a	chr12:4760126-4760137 chr12:4760126-4760139 chr12:4760127-4760138
19	CEBPB	chr12:4751161-4751189	K562	blood:	n/a	n/a
20	CEBPB	chr12:4751163-4751331	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:4757830-4757894	K562	blood:	n/a	n/a
22	CEBPD	chr12:4758143-4758473	HepG2	liver:	n/a	n/a
23	CHD1	chr12:4757476-4758871	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr12:4758021-4758466	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr12:4757737-4757887	K562	blood:	n/a	n/a
26	CHD2	chr12:4758193-4758446	HepG2	liver:	n/a	n/a
27	CHD2	chr12:4757626-4758623	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr12:4758078-4758446	GM12878	blood:	n/a	n/a
29	CREB1	chr12:4758112-4758477	A549	lung:	n/a	n/a
30	CREB1	chr12:4758078-4758323	A549	lung:	n/a	n/a
31	CREB1	chr12:4754210-4754564	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr12:4757960-4758541	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:4762400-4762550	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr12:4758195-4758285	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr12:4762360-4762510	AG04450	lung:	n/a	n/a
36	CTCF	chr12:4758079-4758321	K562	blood:	n/a	n/a
37	CTCF	chr12:4762380-4762530	Caco-2	colon:	n/a	n/a
38	CTCF	chr12:4757436-4757457	GM10266	blood:	n/a	n/a
39	CTCF	chr12:4762440-4762590	AG04449	skin:	n/a	n/a
40	CTCF	chr12:4762380-4762530	HMEC	breast:	n/a	n/a
41	CTCF	chr12:4757748-4757758	K562	blood:	n/a	n/a
42	CTCF	chr12:4762380-4762530	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr12:4758165-4758206	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr12:4762460-4762610	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr12:4757980-4758130	NHLF	lung:	n/a	n/a
46	CTCF	chr12:4750293-4750337	Fibrobl	skin:	n/a	n/a
47	CTCF	chr12:4764900-4765050	NHEK	skin:	n/a	n/a
48	CTCF	chr12:4762420-4762570	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr12:4740568-4740640	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr12:4716120-4716270	BE2_C	brain:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4762206-4762256	GM12892	blood:	n/a
2	chr12:4754247-4754297	CMK	blood:	n/a
3	chr12:4757728-4757778	PrEC	prostate:	n/a
4	chr12:4758424-4758474	MCF10A-Er-Src	breast:	n/a
5	chr12:4758201-4758251	AG04450	lung:	fetal
6	chr12:4755555-4755605	HUVEC	blood vessel:	n/a
7	chr12:4740542-4740592	HCPEpiC	choroid plexus:	n/a
8	chr12:4758250-4758300	PrEC	prostate:	n/a
9	chr12:4758201-4758251	HL-60	blood:	n/a
10	chr12:4758217-4758267	PrEC	prostate:	n/a
11	chr12:4736730-4736780	NHBE	bronchial:	n/a
12	chr12:4740542-4740592	HUVEC	blood vessel:	n/a
13	chr12:4740542-4740592	BJ	skin:	n/a
14	chr12:4758496-4758546	Hela-S3	cervix:	n/a
15	chr12:4758217-4758267	AG09319	gingival:	n/a
16	chr12:4755479-4755529	HepG2	liver:	n/a
17	chr12:4758250-4758300	GM19239	blood:	n/a
18	chr12:4755479-4755529	Caco-2	colon:	n/a
19	chr12:4758250-4758300	GM12891	blood:	n/a
20	chr12:4757728-4757778	T-47D	breast:	n/a
21	chr12:4758250-4758300	HNPCEpiC	eye:	n/a
22	chr12:4755479-4755529	GM06990	blood:	n/a
23	chr12:4740542-4740592	HEEpiC	esophagus:	n/a
24	chr12:4724708-4724758	SAEC	small airway:	n/a
25	chr12:4758217-4758267	MCF10A-Er-Src	breast:	n/a
26	chr12:4755555-4755605	NT2-D1	testis:	n/a
27	chr12:4736730-4736780	NB4	blood:	n/a
28	chr12:4736730-4736780	SKMC	muscle:	n/a
29	chr12:4758272-4758322	A549	lung:	n/a
30	chr12:4757759-4757809	Hela-S3	cervix:	n/a
31	chr12:4736730-4736780	HNPCEpiC	eye:	n/a
32	chr12:4758217-4758267	SK-N-SH	brain:	n/a
33	chr12:4755555-4755605	GM12892	blood:	n/a
34	chr12:4762206-4762256	MCF-7	breast:	n/a
35	chr12:4757728-4757778	CMK	blood:	n/a
36	chr12:4757759-4757809	GM06990	blood:	n/a
37	chr12:4757717-4757767	AG04450	lung:	fetal
38	chr12:4762206-4762256	RPTEC	kidney:	n/a
39	chr12:4754247-4754297	NHDF-neo	bronchial:	n/a
40	chr12:4758496-4758546	HEEpiC	esophagus:	n/a
41	chr12:4758424-4758474	A549	lung:	n/a
42	chr12:4758201-4758251	LNCaP	prostate:	n/a
43	chr12:4757717-4757767	MCF-7	breast:	n/a
44	chr12:4757728-4757778	AG04450	lung:	fetal
45	chr12:4762206-4762256	SK-N-MC	brain:	n/a
46	chr12:4755479-4755529	AG09309	skin:	n/a
47	chr12:4762206-4762256	HIPEpiC	eye:	n/a
48	chr12:4757728-4757778	GM12892	blood:	n/a
49	chr12:4724708-4724758	BJ	skin:	n/a
50	chr12:4754247-4754297	HCF	heart:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4712752..4714423-chr12:4719213..4721715,2	K562	blood:
2	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
3	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:
4	chr12:4758381..4761405-chr12:4778974..4782071,3	K562	blood:
5	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
6	chr12:4762857..4765662-chr12:4767685..4769794,2	K562	blood:
7	chr12:4744167..4745708-chr12:4746619..4748785,2	K562	blood:
8	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
9	chr12:4762857..4765662-chr12:4767685..4769794,2	K562	blood:
10	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
11	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
12	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
13	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:
14	chr12:4716709..4719641-chr12:4721067..4722851,2	K562	blood:
15	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
16	chr12:4724909..4726859-chr12:4756521..4758491,2	K562	blood:
17	chr12:4717083..4718773-chr12:4723734..4726455,2	K562	blood:
18	chr12:4757537..4758351-chr2:9983167..9983703,2	Hela-S3	cervix:
19	chr12:4727784..4729358-chr12:4757590..4759255,2	MCF-7	breast:
20	chr12:4717083..4718773-chr12:4723734..4726455,2	K562	blood:
21	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:
22	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
23	chr12:4758240..4760595-chr12:4768074..4769785,2	K562	blood:
24	chr12:4762342..4764303-chr12:4764418..4767058,2	K562	blood:
25	chr12:4716709..4719641-chr12:4721067..4722851,2	K562	blood:
26	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:
27	chr12:4743724..4745923-chr12:4752293..4755038,2	K562	blood:
28	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:
29	chr12:4757989..4759732-chr12:4759874..4761785,2	MCF-7	breast:
30	chr12:4711350..4714063-chr12:4715790..4718372,3	K562	blood:
31	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
32	chr12:4762342..4764303-chr12:4764418..4767058,2	K562	blood:
33	chr12:4743724..4745923-chr12:4752293..4755038,2	K562	blood:
34	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
35	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-234B24.6.1-1	chr12:4754662-4755041	ENSG00000256381
2	lnc-AKAP3-3	chr12:4757911-4758213	NONHSAT025967
3	lnc-AKAP3-3	chr12:4756240-4758165	NONHSAT025970
4	lnc-RP11-234B24.6.1-1	chr12:4757002-4757193	ENSG00000256381
5	lnc-NDUFA9-1	chr12:4722678-4722989	NONHSAT025965
6	lnc-AKAP3-3	chr12:4754221-4754358	NONHSAT025967
7	lnc-AKAP3-3	chr12:4757620-4758174	NONHSAT025968
8	lnc-AKAP3-3	chr12:4751065-4751170	NONHSAT025967
9	lnc-AKAP3-3	chr12:4751152-4751170	NONHSAT025968
10	lnc-NDUFA9-1	chr12:4721683-4721884	NONHSAT025965

No data

Variant related genes	Relation type
ENSG00000256748	TF binding region
ENSG00000256381	TF binding region
NDUFA9	TF binding region
AKAP3	TF binding region
ENSG00000256799	TF binding region
DYRK4	TF binding region
ENSG00000255639	TF binding region
ENSG00000256748	CpG island
ENSG00000256381	CpG island
NDUFA9	CpG island
AKAP3	CpG island
ENSG00000256799	CpG island
DYRK4	CpG island
ENSG00000255639	CpG island
ENSG00000111254	chromatin interactions
ENSG00000272921	chromatin interactions
ENSG00000256381	chromatin interactions
ENSG00000010219	chromatin interactions
ENSG00000139180	chromatin interactions
ENSG00000256748	chromatin interactions
ENSG00000256799	chromatin interactions
ENSG00000255639	chromatin interactions
ENSG00000115750	chromatin interactions

Extended variants
information (count: 2100 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2100 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7312062	chr12:4715082-4715083	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10849104	chr12:4715088-4715089	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145951225	chr12:4715125-4715126	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs11063258	chr12:4715168-4715169	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539812781	chr12:4715173-4715174	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs558542039	chr12:4715219-4715220	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs553366340	chr12:4715255-4715256	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs533257559	chr12:4715287-4715288	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs139790768	chr12:4715338-4715339	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185100239	chr12:4715384-4715385	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368083851	chr12:4715446-4715447	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs12231655	chr12:4715458-4715459	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149226177	chr12:4715459-4715460	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370866139	chr12:4715460-4715461	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143161456	chr12:4715479-4715480	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs398055276	chr12:4715488-4715489	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs3083726	chr12:4715491-4715492	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200559324	chr12:4715492-4715493	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs113749906	chr12:4715497-4715498	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543789289	chr12:4715506-4715507	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11063259	chr12:4715542-4715543	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531845161	chr12:4715545-4715546	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574580148	chr12:4715554-4715555	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs75299762	chr12:4715607-4715608	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs34600461	chr12:4715639-4715640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552732020	chr12:4715653-4715654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565351065	chr12:4715675-4715676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190736394	chr12:4715723-4715724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181979810	chr12:4715732-4715733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529282502	chr12:4715739-4715740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567669903	chr12:4715747-4715748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111997012	chr12:4715768-4715769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151161385	chr12:4715799-4715800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549421347	chr12:4715814-4715815	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs566061174	chr12:4715831-4715832	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183852530	chr12:4715838-4715839	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139153764	chr12:4715841-4715842	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11063260	chr12:4715847-4715848	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs570974094	chr12:4715976-4715977	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571399971	chr12:4715977-4715978	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188121275	chr12:4715997-4715998	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553305015	chr12:4716004-4716005	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571547507	chr12:4716015-4716016	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573596101	chr12:4716029-4716030	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115440350	chr12:4716148-4716149	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs556608601	chr12:4716154-4716155	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576697050	chr12:4716156-4716157	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs149939317	chr12:4716189-4716190	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565489654	chr12:4716241-4716242	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs572528827	chr12:4716249-4716250	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4713800-4715200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:4713800-4715200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:4713800-4715200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:4713800-4715200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:4713800-4715200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:4713800-4715200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:4713800-4715200	Active TSS	K562	blood
8	chr12:4713800-4715400	Active TSS	HMEC	breast
9	chr12:4713800-4715400	Active TSS	NHLF	lung
10	chr12:4714000-4715200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:4714000-4715200	Active TSS	Ovary	ovary
12	chr12:4714000-4715200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr12:4714000-4715200	Active TSS	GM12878-XiMat	blood
14	chr12:4714200-4715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:4714400-4715200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr12:4714400-4715200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:4714400-4715200	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr12:4714400-4715200	Flanking Active TSS	Dnd41	blood
19	chr12:4714400-4715800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:4714400-4715800	Weak transcription	Gastric	stomach
21	chr12:4714400-4715800	Weak transcription	Pancreas	Pancrea
22	chr12:4714400-4715800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:4714400-4716200	Weak transcription	Stomach Mucosa	stomach
24	chr12:4714400-4716400	Weak transcription	Lung	lung
25	chr12:4714400-4719400	Weak transcription	Spleen	Spleen
26	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:4714600-4715200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:4714600-4715200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:4714600-4715200	Enhancers	Fetal Heart	heart
32	chr12:4714600-4715200	Enhancers	Thymus	Thymus
33	chr12:4714600-4715400	Flanking Active TSS	HUVEC	blood vessel
34	chr12:4714600-4715800	Weak transcription	Left Ventricle	heart
35	chr12:4714600-4716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:4714600-4716200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:4714600-4716200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:4714600-4718400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:4714600-4718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:4714600-4719200	Weak transcription	Aorta	Aorta
41	chr12:4714600-4719200	Weak transcription	Placenta	Placenta
42	chr12:4714600-4719800	Weak transcription	Psoas Muscle	Psoas
43	chr12:4714600-4721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:4714600-4721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:4714600-4721800	Weak transcription	Brain Germinal Matrix	brain
46	chr12:4714600-4721800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links