Variant report

Variant	esv3383543
Chromosome Location	chr3:162472558-162476356
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	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
2	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193132468	chr3:162472558-162472559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141992505	chr3:162472590-162472591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9758116	chr3:162472703-162472704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9758129	chr3:162472743-162472744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576290431	chr3:162472744-162472745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150701011	chr3:162472745-162472746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558654084	chr3:162472754-162472755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557014695	chr3:162472768-162472769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572387839	chr3:162472769-162472770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555440272	chr3:162472772-162472773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184977269	chr3:162472798-162472799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561362490	chr3:162472799-162472800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573919825	chr3:162472830-162472831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139456780	chr3:162472833-162472834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562774269	chr3:162472860-162472861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553669913	chr3:162472869-162472870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367598249	chr3:162472871-162472872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551370609	chr3:162472908-162472909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564764208	chr3:162472915-162472916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73022426	chr3:162472944-162472945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547137051	chr3:162472979-162472980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567016226	chr3:162472980-162472981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13084024	chr3:162473026-162473027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190266397	chr3:162473069-162473070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201206615	chr3:162473163-162473164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181809422	chr3:162473235-162473236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146683607	chr3:162473245-162473246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184999838	chr3:162473278-162473279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535005590	chr3:162473306-162473307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115231031	chr3:162473322-162473323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574938859	chr3:162473325-162473326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188199273	chr3:162473338-162473339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180991460	chr3:162473365-162473366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186484054	chr3:162473384-162473385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190999351	chr3:162473385-162473386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369432182	chr3:162473412-162473413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545003561	chr3:162473416-162473417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565183603	chr3:162473433-162473434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77461413	chr3:162473472-162473473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546951762	chr3:162473499-162473500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139217058	chr3:162473546-162473547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529716161	chr3:162473572-162473573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549980357	chr3:162473600-162473601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575389468	chr3:162473613-162473614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539217101	chr3:162473620-162473621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552633126	chr3:162473676-162473677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566320147	chr3:162473694-162473695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535019184	chr3:162473712-162473713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573455544	chr3:162473757-162473758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1532063	chr3:162473808-162473809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162470800-162480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162471400-162480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162473200-162473600	Enhancers	Dnd41	blood
4	chr3:162473600-162475200	Weak transcription	Dnd41	blood
5	chr3:162475200-162475600	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links