Variant report

Variant	nsv437753
Chromosome Location	chr12:50454357-50462138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:50460075-50460481	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr12:50460207-50460430	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr12:50460015-50460525	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:50459964-50460083	K562	blood:	n/a	n/a
5	CEBPB	chr12:50459803-50460660	IMR90	lung:	n/a	chr12:50460285-50460296
6	CEBPB	chr12:50460163-50460467	A549	lung:	n/a	chr12:50460285-50460296
7	CEBPB	chr12:50460114-50460494	H1-hESC	embryonic stem cell:	n/a	chr12:50460285-50460296
8	CEBPB	chr12:50460144-50460481	Hela-S3	cervix:	n/a	chr12:50460285-50460296
9	CEBPB	chr12:50460110-50460484	ECC-1	luminal epithelium:	n/a	chr12:50460285-50460296
10	CEBPB	chr12:50460131-50460489	HepG2	liver:	n/a	chr12:50460285-50460296
11	CTCF	chr12:50456900-50457050	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr12:50456870-50457041	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:50456880-50457030	NHEK	skin:	n/a	n/a
14	CTCF	chr12:50456640-50456790	NHEK	skin:	n/a	n/a
15	CTCF	chr12:50456840-50456990	HAc	cerebellar:	n/a	n/a
16	CTCF	chr12:50455085-50455133	Lung_OC	lung:	n/a	n/a
17	CTCF	chr12:50456760-50456910	HepG2	liver:	n/a	n/a
18	CTCF	chr12:50456900-50457050	HMEC	breast:	n/a	n/a
19	ELK1	chr12:50460403-50460558	Hela-S3	cervix:	n/a	n/a
20	FOS	chr12:50456580-50456737	MCF10A-Er-Src	breast:	n/a	chr12:50456667-50456677
21	GATA1	chr12:50456952-50457308	PBDE	blood:	n/a	chr12:50457071-50457081 chr12:50457294-50457303 chr12:50457073-50457090 chr12:50457072-50457079 chr12:50457072-50457081
22	JUND	chr12:50460136-50460603	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr12:50461713-50461769	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr12:50460261-50460421	HepG2	liver:	n/a	n/a
25	MAFK	chr12:50460293-50460666	IMR90	lung:	n/a	n/a
26	MAFK	chr12:50460326-50460356	Hela-S3	cervix:	n/a	n/a
27	MAX	chr12:50459710-50459825	NB4	blood:	n/a	chr12:50459751-50459761
28	MXI1	chr12:50459623-50459740	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFYB	chr12:50455438-50455731	GM12878	blood:	n/a	chr12:50455657-50455667 chr12:50455605-50455615 chr12:50455606-50455618 chr12:50455602-50455617 chr12:50455654-50455669 chr12:50455602-50455617 chr12:50455654-50455669
30	NFYB	chr12:50455498-50455720	K562	blood:	n/a	chr12:50455657-50455667 chr12:50455605-50455615 chr12:50455606-50455618 chr12:50455602-50455617 chr12:50455654-50455669 chr12:50455602-50455617 chr12:50455654-50455669
31	POLR2A	chr12:50460399-50460497	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:50460366-50460556	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:50460514-50460518	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:50460522-50460572	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr12:50460382-50460412	Hela-S3	cervix:	n/a	n/a
36	REST	chr12:50459557-50459770	Hela-S3	cervix:	n/a	chr12:50459685-50459694 chr12:50459681-50459694
37	RXRA	chr12:50460112-50460387	H1-hESC	embryonic stem cell:	n/a	n/a
38	SRF	chr12:50460126-50460687	ECC-1	luminal epithelium:	n/a	n/a
39	SRF	chr12:50460072-50460648	HCT-116	colon:	n/a	n/a
40	SRF	chr12:50460162-50460704	H1-hESC	embryonic stem cell:	n/a	n/a
41	SRF	chr12:50460133-50460753	ECC-1	luminal epithelium:	n/a	n/a
42	SRF	chr12:50460169-50460688	H1-hESC	embryonic stem cell:	n/a	n/a
43	SRF	chr12:50460102-50460670	HCT-116	colon:	n/a	n/a
44	TEAD4	chr12:50460135-50460616	ECC-1	luminal epithelium:	n/a	n/a
45	TEAD4	chr12:50460174-50460609	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr12:50460182-50460682	ECC-1	luminal epithelium:	n/a	n/a
47	TEAD4	chr12:50460166-50460589	H1-hESC	embryonic stem cell:	n/a	n/a
48	USF2	chr12:50460264-50460488	Hela-S3	cervix:	n/a	n/a
49	ZNF143	chr12:50460028-50460100	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF263	chr12:50457459-50457643	HEK293-T-REx	kidney:	n/a	chr12:50457487-50457508

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50454399-50454449	T-47D	breast:	n/a
2	chr12:50454399-50454449	GM19239	blood:	n/a
3	chr12:50459310-50459360	GM12891	blood:	n/a
4	chr12:50454399-50454449	AG10803	skin:	n/a
5	chr12:50454399-50454449	NHDF-neo	bronchial:	n/a
6	chr12:50459310-50459360	BJ	skin:	n/a
7	chr12:50459310-50459360	GM06990	blood:	n/a
8	chr12:50454399-50454449	HCM	heart:	n/a
9	chr12:50454399-50454449	HRE	kidney:	n/a
10	chr12:50459310-50459360	H1-hESC	embryonic stem cell:	embryo
11	chr12:50454399-50454449	HEK293	kidney:	embryo
12	chr12:50459310-50459360	NHDF-neo	bronchial:	n/a
13	chr12:50454399-50454449	AG09309	skin:	n/a
14	chr12:50459310-50459360	HCT-116	colon:	n/a
15	chr12:50454399-50454449	AG04450	lung:	fetal
16	chr12:50454399-50454449	GM12891	blood:	n/a
17	chr12:50459310-50459360	PANC-1	pancreas:	n/a
18	chr12:50454399-50454449	HEEpiC	esophagus:	n/a
19	chr12:50454399-50454449	Hepatocyte	liver:	n/a
20	chr12:50454399-50454449	HCPEpiC	choroid plexus:	n/a
21	chr12:50459310-50459360	HCPEpiC	choroid plexus:	n/a
22	chr12:50459310-50459360	GM19239	blood:	n/a
23	chr12:50459310-50459360	BE2_C	brain:	n/a
24	chr12:50459310-50459360	HRCEpiC	kidney:	n/a
25	chr12:50459310-50459360	RPTEC	kidney:	n/a
26	chr12:50454399-50454449	HepG2	liver:	n/a
27	chr12:50459310-50459360	SKMC	muscle:	n/a
28	chr12:50459310-50459360	HL-60	blood:	n/a
29	chr12:50459310-50459360	MCF-7	breast:	n/a
30	chr12:50454399-50454449	GM12892	blood:	n/a
31	chr12:50459310-50459360	AG09319	gingival:	n/a
32	chr12:50454399-50454449	A549	lung:	n/a
33	chr12:50454399-50454449	NH-A	brain:	n/a
34	chr12:50454399-50454449	ECC-1	luminal epithelium:	n/a
35	chr12:50454399-50454449	HCF	heart:	n/a
36	chr12:50454399-50454449	PANC-1	pancreas:	n/a
37	chr12:50459310-50459360	HUVEC	blood vessel:	n/a
38	chr12:50459310-50459360	ovcar-3	ovarian:	n/a
39	chr12:50454399-50454449	HIPEpiC	eye:	n/a
40	chr12:50459310-50459360	SK-N-SH	brain:	n/a
41	chr12:50454399-50454449	K562	blood:	n/a
42	chr12:50454399-50454449	HL-60	blood:	n/a
43	chr12:50454399-50454449	NB4	blood:	n/a
44	chr12:50454399-50454449	BE2_C	brain:	n/a
45	chr12:50459310-50459360	MCF10A-Er-Src	breast:	n/a
46	chr12:50454399-50454449	HNPCEpiC	eye:	n/a
47	chr12:50459310-50459360	NHBE	bronchial:	n/a
48	chr12:50454399-50454449	GM06990	blood:	n/a
49	chr12:50454399-50454449	SK-N-SH_RA	brain:	n/a
50	chr12:50459310-50459360	AoSMC	blood vessel:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50392906..50394750-chr12:50452166..50454470,2	MCF-7	breast:
2	chr12:50454474..50457351-chr12:50461340..50464136,2	K562	blood:
3	chr12:50459247..50461166-chr12:50463048..50465516,2	K562	blood:
4	chr12:50434366..50436539-chr12:50459829..50461923,2	MCF-7	breast:
5	chr12:50452539..50455408-chr12:50466138..50467868,2	MCF-7	breast:
6	chr12:50417744..50420725-chr12:50458618..50461383,3	K562	blood:
7	chr12:50460036..50462356-chr12:50466641..50469491,3	MCF-7	breast:
8	chr12:50413788..50415291-chr12:50456025..50457939,2	MCF-7	breast:
9	chr12:50453939..50455878-chr12:50478011..50480202,2	MCF-7	breast:
10	chr12:50452088..50458692-chr12:50460164..50465883,8	K562	blood:
11	chr12:50461826..50464798-chr12:50477927..50479451,2	K562	blood:
12	chr12:50454474..50457351-chr12:50461340..50464136,2	K562	blood:
13	chr12:50439406..50442269-chr12:50455764..50457419,2	K562	blood:
14	chr12:50449783..50453110-chr12:50454636..50460246,5	MCF-7	breast:
15	chr12:50457113..50458035-chr12:50500382..50501352,2	K562	blood:
16	chr12:50260695..50261429-chr12:50456512..50457389,2	MCF-7	breast:
17	chr12:50431118..50433234-chr12:50455949..50458611,2	MCF-7	breast:
18	chr12:50452088..50458692-chr12:50460164..50465883,8	K562	blood:
19	chr12:50410767..50413288-chr12:50458291..50460266,2	K562	blood:
20	chr12:50455053..50457708-chr12:51157070..51158737,2	MCF-7	breast:

No data

Variant related genes	Relation type
ASIC1	TF binding region
ASIC1	CpG island
ENSG00000161800	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000123268	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs439171	chr12:50454357-50454358	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs425726	chr12:50454378-50454379	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547799134	chr12:50454399-50454400	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570776949	chr12:50454406-50454407	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539082425	chr12:50454410-50454411	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555715746	chr12:50454466-50454467	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116681865	chr12:50454480-50454481	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77260953	chr12:50454655-50454656	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145598686	chr12:50454681-50454682	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551010272	chr12:50454690-50454691	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572150224	chr12:50454696-50454697	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369278437	chr12:50454712-50454713	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372135219	chr12:50454729-50454730	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564386351	chr12:50454787-50454788	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577986003	chr12:50454801-50454802	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546268115	chr12:50454835-50454836	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201430675	chr12:50454847-50454848	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531691256	chr12:50454857-50454858	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148881709	chr12:50454884-50454885	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117644523	chr12:50454908-50454909	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145425782	chr12:50454922-50454923	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138353994	chr12:50454930-50454931	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557769898	chr12:50454939-50454940	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142841803	chr12:50455003-50455004	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570840083	chr12:50455009-50455010	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs627869	chr12:50455069-50455070	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs627887	chr12:50455077-50455078	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569317577	chr12:50455101-50455102	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs56047364	chr12:50455136-50455137	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs189959131	chr12:50455145-50455146	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs555190975	chr12:50455199-50455200	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145025973	chr12:50455231-50455232	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534548111	chr12:50455273-50455274	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375378842	chr12:50455341-50455342	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs557961327	chr12:50455342-50455343	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555798246	chr12:50455383-50455384	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs182039332	chr12:50455433-50455434	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563528330	chr12:50455445-50455446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs576382655	chr12:50455480-50455481	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs542176377	chr12:50455483-50455484	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141393920	chr12:50455527-50455528	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527765589	chr12:50455536-50455537	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs150909097	chr12:50455542-50455543	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs541271830	chr12:50455600-50455601	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs564328166	chr12:50455605-50455606	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs77662218	chr12:50455613-50455614	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs573776901	chr12:50455617-50455618	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533307137	chr12:50455674-50455675	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544349127	chr12:50455756-50455757	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs550061962	chr12:50455859-50455860	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50451400-50454400	Enhancers	Fetal Brain Male	brain
2	chr12:50451400-50459800	Weak transcription	Fetal Heart	heart
3	chr12:50451400-50464000	Weak transcription	Fetal Lung	lung
4	chr12:50451800-50464200	Weak transcription	Gastric	stomach
5	chr12:50452000-50454600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr12:50452000-50455000	Weak transcription	Right Atrium	heart
7	chr12:50452000-50456200	Weak transcription	HMEC	breast
8	chr12:50452000-50464200	Weak transcription	A549	lung
9	chr12:50452200-50454600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:50452200-50454600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:50452200-50456400	Weak transcription	HSMM	muscle
12	chr12:50452200-50464000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:50452400-50454400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:50452400-50455200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:50452400-50460200	Weak transcription	Hela-S3	cervix
16	chr12:50452600-50454600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:50452600-50454800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:50452600-50456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:50452600-50458200	Enhancers	Thymus	Thymus
20	chr12:50452600-50459200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:50452600-50464000	Weak transcription	Esophagus	oesophagus
22	chr12:50452800-50454400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:50452800-50457200	Genic enhancers	Fetal Brain Female	brain
24	chr12:50452800-50458600	Enhancers	Fetal Thymus	thymus
25	chr12:50453000-50454400	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:50453000-50454600	Strong transcription	Fetal Intestine Small	intestine
27	chr12:50453200-50454400	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:50453200-50454400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:50453200-50454600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:50453200-50455200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:50453200-50458400	Enhancers	Brain Substantia Nigra	brain
32	chr12:50453400-50455200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:50453400-50455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:50453400-50455600	Genic enhancers	Brain Hippocampus Middle	brain
35	chr12:50453600-50455000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:50453600-50455600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:50453600-50456400	Bivalent Enhancer	Placenta	Placenta
38	chr12:50453800-50455000	Enhancers	Primary T cells from cord blood	blood
39	chr12:50453800-50455200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:50453800-50455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:50453800-50455800	Genic enhancers	Brain Angular Gyrus	brain
42	chr12:50453800-50456600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:50453800-50460400	Strong transcription	Fetal Stomach	stomach
44	chr12:50454000-50454400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:50454000-50454800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:50454000-50454800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:50454000-50455600	Strong transcription	Brain Germinal Matrix	brain
48	chr12:50454000-50456000	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:50454000-50457200	Enhancers	Brain Anterior Caudate	brain
50	chr12:50454200-50454800	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links