Variant report

Variant	nsv527330
Chromosome Location	chr2:234688036-234702905
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	E2F4	chr2:234695185-234695365	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:234697926-234697984	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:234693186-234693246	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:234701225-234701849	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr2:234688276-234688305	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:234698056-234698156	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:234699273-234700374	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:234691484-234691628	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:234688370-234688390	MCF-7	breast:	n/a	n/a
10	RFX5	chr2:234702818-234702829	HepG2	liver:	n/a	n/a
11	STAT3	chr2:234695798-234695997	MCF10A-Er-Src	breast:	n/a	n/a
12	USF1	chr2:234702707-234702931	HepG2	liver:	n/a	chr2:234702829-234702840
13	USF1	chr2:234702697-234702938	HepG2	liver:	n/a	chr2:234702829-234702840
14	USF1	chr2:234693194-234693519	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr2:234688773-234689003	HepG2	liver:	n/a	n/a
16	ZNF384	chr2:234700901-234701099	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234701836..234703559-chr2:234710558..234712096,2	K562	blood:
3	chr2:234697940..234699847-chr2:234705586..234707184,2	MCF-7	breast:

Variant related genes	Relation type
MROH2A	TF binding region
ENSG00000224287	chromatin interactions

Extended variants
information (count: 760 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6431631	chr2:234688036-234688037	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538390853	chr2:234688067-234688068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575882985	chr2:234688106-234688107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200606208	chr2:234688164-234688165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541714075	chr2:234688173-234688174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145684149	chr2:234688206-234688207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181198896	chr2:234688231-234688232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539092957	chr2:234688264-234688265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541041610	chr2:234688269-234688270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554973627	chr2:234688270-234688271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186705555	chr2:234688275-234688276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575041544	chr2:234688302-234688303	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17863803	chr2:234688327-234688328	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570258181	chr2:234688333-234688334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35707910	chr2:234688342-234688343	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369049742	chr2:234688352-234688353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376043435	chr2:234688353-234688354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs17868345	chr2:234688360-234688361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201099982	chr2:234688365-234688366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138245177	chr2:234688374-234688375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35198010	chr2:234688384-234688385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201714498	chr2:234688394-234688395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558143167	chr2:234688403-234688404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571606905	chr2:234688419-234688420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200069914	chr2:234688427-234688428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57894674	chr2:234688439-234688440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557216770	chr2:234688441-234688442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575819229	chr2:234688457-234688458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541647931	chr2:234688479-234688480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377483834	chr2:234688502-234688503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181612740	chr2:234688509-234688510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186135159	chr2:234688521-234688522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201139647	chr2:234688522-234688523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371101831	chr2:234688528-234688529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532835891	chr2:234688603-234688604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34253127	chr2:234688653-234688654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28900417	chr2:234688654-234688655	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191002928	chr2:234688746-234688747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28900418	chr2:234688788-234688789	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531215923	chr2:234688791-234688792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371056795	chr2:234688793-234688794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28946893	chr2:234688794-234688795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566336283	chr2:234688863-234688864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528785497	chr2:234688926-234688927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551836462	chr2:234688931-234688932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571607716	chr2:234688952-234688953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28900419	chr2:234689009-234689010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146158018	chr2:234689033-234689034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34333383	chr2:234689043-234689044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557015613	chr2:234689068-234689069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234699400-234699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:234701400-234701600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:234701600-234702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:234701600-234703400	Enhancers	Fetal Intestine Large	intestine
5	chr2:234701800-234703200	Enhancers	Fetal Intestine Small	intestine
6	chr2:234702000-234702400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234702000-234702400	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:234702200-234702600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234702200-234703200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:234702200-234703400	Bivalent Enhancer	HepG2	liver
11	chr2:234702600-234704400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:234702800-234703000	ZNF genes & repeats	Spleen	Spleen

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