Variant report

Variant	nsv517003
Chromosome Location	chr2:234942723-234953978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
2	2:234635414-234639782..2:234945222-234954947	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000241635	chromatin interactions
ENSG00000243135	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11677901	chr2:234942723-234942724	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139502797	chr2:234942733-234942734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564766381	chr2:234942734-234942735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28903672	chr2:234942757-234942758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149671607	chr2:234942928-234942929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75503891	chr2:234942947-234942948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563915916	chr2:234943013-234943014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145441553	chr2:234943032-234943033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs140413053	chr2:234943042-234943043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542033053	chr2:234943057-234943058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567123572	chr2:234943068-234943069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144124664	chr2:234943091-234943092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549578112	chr2:234943117-234943118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28903673	chr2:234943188-234943189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575598588	chr2:234943225-234943226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538317451	chr2:234943247-234943248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554802473	chr2:234943261-234943262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs10174012	chr2:234943285-234943286	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs28903674	chr2:234943319-234943320	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559128214	chr2:234943356-234943357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572789737	chr2:234943365-234943366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186568766	chr2:234943396-234943397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564874777	chr2:234943403-234943404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563408597	chr2:234943435-234943436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530456752	chr2:234943464-234943465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550566569	chr2:234943533-234943534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10190663	chr2:234943592-234943593	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs191353269	chr2:234943640-234943641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146515740	chr2:234943692-234943693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368017868	chr2:234943719-234943720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183942590	chr2:234943736-234943737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532853951	chr2:234943745-234943746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141053038	chr2:234943773-234943774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143123096	chr2:234943795-234943796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537820055	chr2:234943798-234943799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530407070	chr2:234943821-234943822	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148332477	chr2:234943842-234943843	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568173047	chr2:234943843-234943844	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28903675	chr2:234943868-234943869	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542656313	chr2:234943885-234943886	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552744437	chr2:234943911-234943912	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572727817	chr2:234943917-234943918	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544886404	chr2:234943919-234943920	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs634930	chr2:234943981-234943982	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575515903	chr2:234943998-234943999	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554214866	chr2:234944027-234944028	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs624460	chr2:234944028-234944029	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs17864794	chr2:234944043-234944044	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140483836	chr2:234944050-234944051	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs150407244	chr2:234944051-234944052	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	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
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	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
Ovarian cancer	21720365	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234941800-234952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:234942000-234943400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:234942200-234943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:234942200-234945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:234943400-234946200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234943800-234944000	Enhancers	Pancreas	Pancrea
7	chr2:234943800-234944800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:234943800-234944800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:234944000-234944800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr2:234944000-234946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:234944400-234944600	ZNF genes & repeats	Aorta	Aorta
12	chr2:234944400-234944600	ZNF genes & repeats	Pancreas	Pancrea
13	chr2:234946200-234947400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:234946800-234947400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:234946800-234947400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:234947000-234947400	Enhancers	HSMM	muscle
17	chr2:234947000-234947600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:234947400-234952600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:234952000-234953000	Enhancers	HMEC	breast
20	chr2:234952200-234953600	Enhancers	A549	lung
21	chr2:234952400-234952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:234952400-234953000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:234952400-234953400	Enhancers	HUVEC	blood vessel
24	chr2:234952400-234953400	Enhancers	NHEK	skin
25	chr2:234952600-234953000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:234952600-234953400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:234952600-234953400	Enhancers	NHDF-Ad	bronchial
28	chr2:234952600-234953600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:234952600-234953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:234952800-234953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234953000-234956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:234953000-234956600	Weak transcription	HMEC	breast
33	chr2:234953200-234953400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:234953400-234953600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:234953400-234956000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:234953400-234956000	Weak transcription	NHDF-Ad	bronchial
37	chr2:234953600-234956000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:234953600-234956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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