Variant report

Variant	nsv980028
Chromosome Location	chr3:163606930-163623947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
2	chr3:163611385..163613477-chr3:163617466..163620081,2	K562	blood:
3	chr20:46012245..46013152-chr3:163614507..163615347,2	MCF-7	breast:

Extended variants
information (count: 252 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs561041944	chr3:163606930-163606931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377092630	chr3:163606966-163606967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568895485	chr3:163607008-163607009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1881968	chr3:163607022-163607023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551365595	chr3:163607072-163607073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561462270	chr3:163607094-163607095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144941218	chr3:163607129-163607130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191944544	chr3:163607156-163607157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7648396	chr3:163607202-163607203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560840985	chr3:163607234-163607235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16847343	chr3:163607266-163607267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556399134	chr3:163607296-163607297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34867972	chr3:163607453-163607454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397991537	chr3:163607455-163607456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374078563	chr3:163607456-163607457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367953383	chr3:163607457-163607458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149048096	chr3:163607513-163607514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74988986	chr3:163607591-163607592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533861805	chr3:163607596-163607597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558513267	chr3:163607623-163607624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532334083	chr3:163607654-163607655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577558786	chr3:163607674-163607675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540155671	chr3:163607702-163607703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560350678	chr3:163607729-163607730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73876499	chr3:163607759-163607760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7626120	chr3:163607772-163607773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184273179	chr3:163607876-163607877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111757255	chr3:163607909-163607910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4632546	chr3:163607960-163607961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368761205	chr3:163608041-163608042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553636958	chr3:163608045-163608046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569324983	chr3:163608138-163608139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536092015	chr3:163608139-163608140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372099731	chr3:163608177-163608178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531410921	chr3:163608188-163608189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201063504	chr3:163608291-163608292	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375356306	chr3:163608319-163608320	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145873147	chr3:163608346-163608347	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564863185	chr3:163608394-163608395	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528036871	chr3:163608421-163608422	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547778546	chr3:163608435-163608436	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369382295	chr3:163608438-163608439	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1150432	chr3:163608523-163608524	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550327136	chr3:163608539-163608540	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34599850	chr3:163608554-163608555	Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566949660	chr3:163608641-163608642	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569850826	chr3:163608686-163608687	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs17488437	chr3:163608736-163608737	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558576613	chr3:163608752-163608753	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs4855203	chr3:163608787-163608788	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163606600-163608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163606800-163607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:163607200-163608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:163608200-163608800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:163608200-163609000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:163608200-163609600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:163608200-163610000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:163608400-163609000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163608400-163609000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:163608400-163609600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:163608600-163609000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:163608800-163609000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:163610000-163611600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:163611600-163611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:163615400-163615800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:163622000-163622200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:163622200-163623400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:163623400-163624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:163623600-163624200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:163623800-163624400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:163623800-163624600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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