Variant report

Variant	nsv961539
Chromosome Location	chr2:188610871-188625469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:188617429-188617452	GM12878	blood:	n/a	n/a
2	CTCF	chr2:188618175-188618211	GM20000	blood:	n/a	n/a
3	CTCF	chr2:188617300-188617450	HCT-116	colon:	n/a	n/a
4	CTCF	chr2:188617140-188617290	GM12865	blood:	n/a	n/a
5	E2F4	chr2:188619255-188619439	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr2:188616802-188617009	GM12878	blood:	n/a	chr2:188616913-188616924 chr2:188616845-188616856
7	IRF1	chr2:188620490-188620518	K562	blood:	n/a	n/a
8	JUN	chr2:188616042-188616092	K562	blood:	n/a	n/a
9	MYC	chr2:188613764-188613866	MCF-7	breast:	n/a	n/a
10	MYC	chr2:188613771-188613916	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr2:188613765-188613855	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:188614926-188614948	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:188613887-188613963	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:188613742-188613970	Gliobla	brain:	n/a	n/a
15	POLR2A	chr2:188613782-188613874	A549	lung:	n/a	n/a
16	POLR2A	chr2:188614920-188615252	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:188613740-188614052	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:188613766-188613836	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000252004	TF binding region

Extended variants
information (count: 458 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548655758	chr2:188612414-188612415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146797417	chr2:188612454-188612455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368636671	chr2:188612459-188612460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542228222	chr2:188612468-188612469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537630676	chr2:188612525-188612526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137984942	chr2:188612640-188612641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571124918	chr2:188612655-188612656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528388207	chr2:188612669-188612670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553748264	chr2:188612670-188612671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568053987	chr2:188612671-188612672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71434610	chr2:188612759-188612760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535137783	chr2:188612768-188612769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149260967	chr2:188612769-188612770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57404402	chr2:188612776-188612777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187543708	chr2:188612800-188612801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375499648	chr2:188612909-188612910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545947201	chr2:188612953-188612954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557542889	chr2:188612957-188612958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558084876	chr2:188613030-188613031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572756703	chr2:188613041-188613042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540135806	chr2:188613155-188613156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75108489	chr2:188613168-188613169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374937970	chr2:188613271-188613272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530022295	chr2:188613281-188613282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541887125	chr2:188613290-188613291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563775678	chr2:188613364-188613365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530925003	chr2:188613393-188613394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556841652	chr2:188613413-188613414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113137040	chr2:188613424-188613425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145751357	chr2:188613498-188613499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191626256	chr2:188613585-188613586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555279336	chr2:188613590-188613591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371360088	chr2:188613595-188613596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532240808	chr2:188613596-188613597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571053066	chr2:188613618-188613619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184964480	chr2:188613636-188613637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547297950	chr2:188613680-188613681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568795247	chr2:188613737-188613738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535399478	chr2:188613756-188613757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556696293	chr2:188613760-188613761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568891787	chr2:188613781-188613782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539165035	chr2:188613870-188613871	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs557479879	chr2:188613873-188613874	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148204385	chr2:188613925-188613926	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540074648	chr2:188613969-188613970	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555220817	chr2:188614041-188614042	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75364435	chr2:188614099-188614100	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573874613	chr2:188614114-188614115	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551072584	chr2:188614124-188614125	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78793019	chr2:188614125-188614126	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188612400-188624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:188613800-188614200	Enhancers	Pancreas	Pancrea
3	chr2:188613800-188614200	Active TSS	Spleen	Spleen
4	chr2:188613800-188615200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:188615000-188615200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:188615200-188617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:188616200-188616600	Enhancers	NHEK	skin
8	chr2:188616200-188616800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:188616200-188617000	Enhancers	HMEC	breast
10	chr2:188616400-188616600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:188616400-188616800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:188617600-188617800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:188622200-188624200	Weak transcription	Aorta	Aorta
14	chr2:188624200-188624400	Enhancers	Aorta	Aorta
15	chr2:188624600-188624800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:188625400-188626800	Enhancers	Muscle Satellite Cultured Cells	--

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