Variant report

Variant	nsv980076
Chromosome Location	chr3:162468193-162485928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
2	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
3	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
4	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
5	chr3:162468849..162471720-chr3:162897232..162899564,2	K562	blood:

Extended variants
information (count: 692 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140358493	chr3:162468194-162468195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541003230	chr3:162468213-162468214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561214975	chr3:162468214-162468215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369359581	chr3:162468375-162468376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372901797	chr3:162468390-162468391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75694749	chr3:162468391-162468392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145547889	chr3:162468417-162468418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13097448	chr3:162468419-162468420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370875182	chr3:162468421-162468422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375427135	chr3:162468428-162468429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547308507	chr3:162468511-162468512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532049240	chr3:162468558-162468559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138132768	chr3:162468620-162468621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6441548	chr3:162468622-162468623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13097943	chr3:162468649-162468650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148106805	chr3:162468663-162468664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6792134	chr3:162468711-162468712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6792144	chr3:162468755-162468756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557349054	chr3:162468790-162468791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371945259	chr3:162468807-162468808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76236235	chr3:162468818-162468819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62393487	chr3:162468820-162468821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528292481	chr3:162468828-162468829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188194879	chr3:162468842-162468843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114015883	chr3:162468843-162468844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75794604	chr3:162468868-162468869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6792337	chr3:162468900-162468901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574344812	chr3:162468902-162468903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191551179	chr3:162468908-162468909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141881345	chr3:162468949-162468950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531963088	chr3:162469000-162469001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530993282	chr3:162469075-162469076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552011837	chr3:162469092-162469093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559393717	chr3:162469096-162469097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528722785	chr3:162469109-162469110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555379747	chr3:162469151-162469152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6441549	chr3:162469178-162469179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531205893	chr3:162469193-162469194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184078210	chr3:162469194-162469195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570893722	chr3:162469215-162469216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147281725	chr3:162469218-162469219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34898370	chr3:162469274-162469275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553240156	chr3:162469312-162469313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78476600	chr3:162469313-162469314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190163450	chr3:162469354-162469355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140913562	chr3:162469406-162469407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574408194	chr3:162469417-162469418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181864632	chr3:162469425-162469426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143261728	chr3:162469461-162469462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576475315	chr3:162469464-162469465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162465800-162469800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162466800-162468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:162468200-162470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:162469800-162470800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:162470200-162471400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:162470800-162480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:162471400-162480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:162473200-162473600	Enhancers	Dnd41	blood
9	chr3:162473600-162475200	Weak transcription	Dnd41	blood
10	chr3:162475200-162475600	Enhancers	Dnd41	blood
11	chr3:162480200-162481000	Enhancers	Dnd41	blood
12	chr3:162480400-162481200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:162480400-162482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:162481000-162483200	Weak transcription	Dnd41	blood
15	chr3:162481200-162482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:162481200-162483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:162481400-162481600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:162481800-162482400	Enhancers	Fetal Intestine Large	intestine
20	chr3:162482200-162482800	Enhancers	NHDF-Ad	bronchial
21	chr3:162482400-162482800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:162482400-162483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:162483200-162484400	ZNF genes & repeats	Dnd41	blood
25	chr3:162483400-162484000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:162483400-162484200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:162483400-162484400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr3:162483400-162485200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:162483600-162484200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:162484200-162484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:162485000-162485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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