Variant report

Variant	nsv10345
Chromosome Location	chr3:162495164-162497110
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	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575222729	chr3:162495166-162495167	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575241184	chr3:162495169-162495170	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544344295	chr3:162495207-162495208	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150215	chr3:162495253-162495254	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs112728965	chr3:162495277-162495278	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545952886	chr3:162495287-162495288	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559263094	chr3:162495358-162495359	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528423547	chr3:162495368-162495369	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148244752	chr3:162495443-162495444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561713322	chr3:162495444-162495445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3853174	chr3:162495495-162495496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550705378	chr3:162495516-162495517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542909046	chr3:162495554-162495555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570492884	chr3:162495560-162495561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs206302	chr3:162495621-162495622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142840619	chr3:162495673-162495674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28437154	chr3:162495691-162495692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111487406	chr3:162495715-162495716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143056125	chr3:162495716-162495717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141294759	chr3:162495769-162495770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535783068	chr3:162495780-162495781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11918979	chr3:162495859-162495860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568912977	chr3:162495879-162495880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537806417	chr3:162495885-162495886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534387102	chr3:162495886-162495887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557994529	chr3:162495888-162495889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543747754	chr3:162495896-162495897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578070701	chr3:162495931-162495932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150785640	chr3:162495938-162495939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553173677	chr3:162496064-162496065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542845581	chr3:162496098-162496099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541150423	chr3:162496099-162496100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573072154	chr3:162496126-162496127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542148654	chr3:162496154-162496155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75012595	chr3:162496199-162496200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544919863	chr3:162496200-162496201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138092922	chr3:162496217-162496218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9851876	chr3:162496237-162496238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185090420	chr3:162496301-162496302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141922629	chr3:162496328-162496329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546366565	chr3:162496343-162496344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146309690	chr3:162496352-162496353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139543912	chr3:162496387-162496388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538908064	chr3:162496406-162496407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550489090	chr3:162496407-162496408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397762470	chr3:162496414-162496415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs206301	chr3:162496457-162496458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190053486	chr3:162496466-162496467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145379599	chr3:162496480-162496481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201053598	chr3:162496483-162496484	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162494400-162495400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162494600-162495200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:162494600-162496000	Enhancers	Dnd41	blood
4	chr3:162495200-162495400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:162495200-162500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:162495400-162497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:162496000-162498000	Weak transcription	Dnd41	blood

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