Variant report

Variant	nsv516901
Chromosome Location	chr3:162482732-162495102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
2	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
3	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:

Extended variants
information (count: 514 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9290133	chr3:162482732-162482733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533221993	chr3:162482741-162482742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532432742	chr3:162482770-162482771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546664231	chr3:162482782-162482783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556629513	chr3:162482795-162482796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139693672	chr3:162482905-162482906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187545524	chr3:162482928-162482929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192410483	chr3:162482942-162482943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185774713	chr3:162482960-162482961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556649024	chr3:162483029-162483030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202162522	chr3:162483118-162483119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397991517	chr3:162483119-162483120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570446543	chr3:162483136-162483137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539568132	chr3:162483138-162483139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553101632	chr3:162483157-162483158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75824491	chr3:162483158-162483159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367711130	chr3:162483179-162483180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563017474	chr3:162483227-162483228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542018269	chr3:162483229-162483230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556029871	chr3:162483248-162483249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62393493	chr3:162483316-162483317	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147651396	chr3:162483327-162483328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564361448	chr3:162483371-162483372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548366612	chr3:162483385-162483386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533149838	chr3:162483390-162483391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139866793	chr3:162483398-162483399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560170550	chr3:162483408-162483409	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528271402	chr3:162483430-162483431	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149983689	chr3:162483448-162483449	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534069005	chr3:162483461-162483462	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530747915	chr3:162483526-162483527	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550829988	chr3:162483557-162483558	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs34893199	chr3:162483618-162483619	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542257405	chr3:162483646-162483647	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374862511	chr3:162483657-162483658	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539432824	chr3:162483721-162483722	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs145225191	chr3:162483767-162483768	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149171172	chr3:162483774-162483775	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536070610	chr3:162483804-162483805	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73167619	chr3:162483842-162483843	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60503715	chr3:162483844-162483845	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs9713282	chr3:162483849-162483850	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376823707	chr3:162483870-162483871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146843310	chr3:162483877-162483878	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12631164	chr3:162483878-162483879	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540186442	chr3:162483892-162483893	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73877807	chr3:162483916-162483917	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73022474	chr3:162483941-162483942	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543091739	chr3:162483949-162483950	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561762525	chr3:162483979-162483980	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chordoma	21215367	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162481000-162483200	Weak transcription	Dnd41	blood
2	chr3:162481200-162483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:162482200-162482800	Enhancers	NHDF-Ad	bronchial
5	chr3:162482400-162482800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:162482400-162483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:162483200-162484400	ZNF genes & repeats	Dnd41	blood
9	chr3:162483400-162484000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:162483400-162484200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:162483400-162484400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr3:162483400-162485200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:162483600-162484200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:162484200-162484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:162485000-162485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:162487000-162487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:162492400-162493000	Enhancers	Dnd41	blood
36	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:162493000-162494600	Weak transcription	Dnd41	blood
39	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:162493800-162495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:162494400-162494600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:162494400-162495400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:162494600-162495200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:162494600-162496000	Enhancers	Dnd41	blood

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