Variant report

Variant	nsv592397
Chromosome Location	chr3:162755783-162768964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:
2	chr3:162754967..162757825-chr3:162758379..162760616,2	MCF-7	breast:
3	chr3:162003324..162004086-chr3:162760294..162761113,2	MCF-7	breast:
4	chr3:162754967..162757825-chr3:162758379..162760616,2	MCF-7	breast:
5	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
6	chr3:162755966..162757761-chr3:162760804..162762764,2	MCF-7	breast:

Extended variants
information (count: 476 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13086851	chr3:162755783-162755784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13091467	chr3:162755876-162755877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150305849	chr3:162755889-162755890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532505029	chr3:162755898-162755899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137977229	chr3:162755901-162755902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13071296	chr3:162755915-162755916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116632456	chr3:162755944-162755945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533532552	chr3:162755955-162755956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13071441	chr3:162755980-162755981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201750996	chr3:162756035-162756036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377215460	chr3:162756040-162756041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190968482	chr3:162756050-162756051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555999730	chr3:162756087-162756088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73016926	chr3:162756099-162756100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538220465	chr3:162756110-162756111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558397839	chr3:162756112-162756113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12490279	chr3:162756151-162756152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572093573	chr3:162756165-162756166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145985304	chr3:162756166-162756167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375285531	chr3:162756173-162756174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561531807	chr3:162756176-162756177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12496716	chr3:162756202-162756203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12493737	chr3:162756243-162756244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139923948	chr3:162756306-162756307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532570472	chr3:162756332-162756333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552520228	chr3:162756366-162756367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117488480	chr3:162756411-162756412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386667740	chr3:162756427-162756428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12490371	chr3:162756460-162756461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13092443	chr3:162756477-162756478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556295813	chr3:162756490-162756491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553020829	chr3:162756542-162756543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141815040	chr3:162756547-162756548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183539070	chr3:162756548-162756549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569594117	chr3:162756554-162756555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538283732	chr3:162756570-162756571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186784038	chr3:162756584-162756585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192529633	chr3:162756615-162756616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182614977	chr3:162756664-162756665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372364842	chr3:162756712-162756713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111386535	chr3:162756719-162756720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56995140	chr3:162756724-162756725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200081006	chr3:162756725-162756726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13093463	chr3:162756746-162756747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555954256	chr3:162756751-162756752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544002754	chr3:162756766-162756767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575191095	chr3:162756821-162756822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73016930	chr3:162756822-162756823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577595636	chr3:162756841-162756842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188132250	chr3:162756848-162756849	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162753400-162756000	Weak transcription	Dnd41	blood
3	chr3:162756000-162756800	Enhancers	Dnd41	blood
4	chr3:162756800-162757200	Weak transcription	Dnd41	blood
5	chr3:162757200-162758000	Enhancers	Dnd41	blood
6	chr3:162762000-162763200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:162762600-162763400	Enhancers	Adipose Nuclei	Adipose
8	chr3:162762600-162764000	Enhancers	Dnd41	blood
9	chr3:162764000-162764400	Flanking Active TSS	Dnd41	blood
10	chr3:162764400-162765000	Enhancers	Dnd41	blood
11	chr3:162765000-162769000	Weak transcription	Dnd41	blood
12	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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