Variant report

Variant	nsv516841
Chromosome Location	chr3:162123179-162203013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:
2	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
3	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
4	chr3:162161201..162163178-chr3:162177234..162178956,2	MCF-7	breast:

Extended variants
information (count: 1083 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574991298	chr3:162129400-162129401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548756776	chr3:162129409-162129410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568757839	chr3:162129440-162129441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538097553	chr3:162129452-162129453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142851427	chr3:162129508-162129509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9828934	chr3:162129513-162129514	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539610771	chr3:162129528-162129529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4856681	chr3:162129529-162129530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144634553	chr3:162129543-162129544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573767440	chr3:162129547-162129548	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542788042	chr3:162129548-162129549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183660751	chr3:162129553-162129554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs9828808	chr3:162129569-162129570	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575595082	chr3:162129588-162129589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9828836	chr3:162129612-162129613	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374656472	chr3:162129613-162129614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370683799	chr3:162129628-162129629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73159773	chr3:162129645-162129646	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561398177	chr3:162129661-162129662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs148869201	chr3:162129698-162129699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs377122655	chr3:162129701-162129702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572377865	chr3:162129711-162129712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368380381	chr3:162129788-162129789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541009994	chr3:162129818-162129819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188415717	chr3:162129957-162129958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4856682	chr3:162129993-162129994	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140716727	chr3:162137143-162137144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574257873	chr3:162137153-162137154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144555204	chr3:162137163-162137164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549858940	chr3:162137187-162137188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570119032	chr3:162137190-162137191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369787891	chr3:162137225-162137226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558758413	chr3:162137238-162137239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182796058	chr3:162137297-162137298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6789202	chr3:162137300-162137301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115244419	chr3:162137312-162137313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574784051	chr3:162137316-162137317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543517080	chr3:162137321-162137322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557450223	chr3:162137335-162137336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556968378	chr3:162137369-162137370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140714070	chr3:162137372-162137373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12639087	chr3:162137425-162137426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6764843	chr3:162137428-162137429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10936280	chr3:162137470-162137471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186006498	chr3:162137514-162137515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529710883	chr3:162137537-162137538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61422515	chr3:162137566-162137567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10936281	chr3:162137582-162137583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532113371	chr3:162137653-162137654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150107181	chr3:162137692-162137693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162129400-162129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:162129400-162130000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:162129400-162130000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:162129600-162130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:162155200-162157200	ZNF genes & repeats	Dnd41	blood
7	chr3:162155600-162156000	Enhancers	Osteobl	bone
8	chr3:162157200-162161200	Weak transcription	Dnd41	blood
9	chr3:162159400-162160200	Enhancers	Fetal Heart	heart
10	chr3:162161200-162161400	Enhancers	Dnd41	blood
11	chr3:162161400-162169600	Weak transcription	Dnd41	blood
12	chr3:162167000-162168600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:162176200-162176400	ZNF genes & repeats	Pancreas	Pancrea
14	chr3:162177400-162177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:162177600-162178000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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