Variant report

Variant	nsv961571
Chromosome Location	chr2:234494111-234495500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	2:234494396-234495604..2:234625307-234630376	K562	blood:
2	2:234494396-234495604..2:234898811-234918017	K562	blood:
3	2:234494396-234495604..2:234882053-234898292	K562	blood:
4	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
5	2:234492023-234494396..2:234743181-234749667	Hela-S3	cervix:
6	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
7	chr2:234495064..234497019-chr2:234498487..234500716,2	K562	blood:
8	2:234494396-234495604..2:234572898-234594986	K562	blood:
9	2:234494396-234495604..2:234743181-234749667	Hela-S3	cervix:
10	2:234494396-234495604..2:234666975-234672018	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241119	chromatin interactions
ENSG00000242366	chromatin interactions
ENSG00000144481	chromatin interactions
ENSG00000234143	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000123485	chromatin interactions
ENSG00000244474	chromatin interactions
ENSG00000242515	chromatin interactions
ENSG00000072080	chromatin interactions
ENSG00000244122	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191536582	chr2:234494118-234494119	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs531410414	chr2:234494125-234494126	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs57768657	chr2:234494133-234494134	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150570034	chr2:234494134-234494135	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs28946875	chr2:234494135-234494136	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547801768	chr2:234494137-234494138	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs570733241	chr2:234494152-234494153	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs184020528	chr2:234494154-234494155	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs17868294	chr2:234494155-234494156	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190055864	chr2:234494159-234494160	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs13417719	chr2:234494173-234494174	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555990021	chr2:234494194-234494195	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574510018	chr2:234494213-234494214	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs539929544	chr2:234494214-234494215	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs560165820	chr2:234494228-234494229	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs576780097	chr2:234494244-234494245	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs181891458	chr2:234494247-234494248	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs562445671	chr2:234494260-234494261	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs531497870	chr2:234494280-234494281	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548021833	chr2:234494285-234494286	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs13432903	chr2:234494315-234494316	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561713853	chr2:234494328-234494329	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564020950	chr2:234494341-234494342	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs185640867	chr2:234494359-234494360	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs142082277	chr2:234494392-234494393	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs570888993	chr2:234494405-234494406	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs539846547	chr2:234494429-234494430	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs550197855	chr2:234494449-234494450	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs532790495	chr2:234494471-234494472	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs13430633	chr2:234494513-234494514	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139468153	chr2:234494514-234494515	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs555956141	chr2:234494534-234494535	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs572574874	chr2:234494562-234494563	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs535185206	chr2:234494564-234494565	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs114381801	chr2:234494594-234494595	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs576823982	chr2:234494648-234494649	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs114667609	chr2:234494716-234494717	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs111931877	chr2:234494730-234494731	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs180789889	chr2:234494754-234494755	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs541699587	chr2:234494807-234494808	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs561988824	chr2:234494826-234494827	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs527508412	chr2:234494829-234494830	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs28968502	chr2:234494839-234494840	Inactive region	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28968503	chr2:234494842-234494843	Inactive region	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533456462	chr2:234494843-234494844	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs115666119	chr2:234494846-234494847	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs570047838	chr2:234494850-234494851	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs529279489	chr2:234494910-234494911	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs72482115	chr2:234494925-234494926	Inactive region	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566324329	chr2:234494944-234494945	Inactive region	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234486400-234494800	Weak transcription	A549	lung
2	chr2:234493000-234494200	Enhancers	Spleen	Spleen
3	chr2:234495000-234497000	Enhancers	GM12878-XiMat	blood

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