Variant report

Variant	esv3491146
Chromosome Location	chr3:162008260-162012374
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	chr3:162004198..162005770-chr3:162006537..162008714,2	MCF-7	breast:

Extended variants
information (count: 153 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540557877	chr3:162008409-162008410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560812514	chr3:162008442-162008443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36021941	chr3:162008516-162008517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34460061	chr3:162008528-162008529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73155831	chr3:162008540-162008541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373662546	chr3:162008545-162008546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376859983	chr3:162008565-162008566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9850476	chr3:162008592-162008593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552661346	chr3:162008644-162008645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531734235	chr3:162008651-162008652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13063697	chr3:162008681-162008682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201814393	chr3:162008716-162008717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398082599	chr3:162008723-162008724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398091948	chr3:162008724-162008725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28701128	chr3:162008746-162008747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143580883	chr3:162008747-162008748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28562618	chr3:162008749-162008750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546468190	chr3:162008822-162008823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564368317	chr3:162008831-162008832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370209490	chr3:162008877-162008878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566466014	chr3:162008944-162008945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535050947	chr3:162008950-162008951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150142814	chr3:162008953-162008954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568891446	chr3:162008962-162008963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78150004	chr3:162008976-162008977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557872410	chr3:162008977-162008978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138611920	chr3:162008985-162008986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199780564	chr3:162009038-162009039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149322824	chr3:162009046-162009047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368547152	chr3:162009064-162009065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143364295	chr3:162009087-162009088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562816412	chr3:162009099-162009100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373871333	chr3:162009116-162009117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529770686	chr3:162009192-162009193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188104750	chr3:162009195-162009196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193081791	chr3:162009204-162009205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200757864	chr3:162009205-162009206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562872323	chr3:162009206-162009207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571358147	chr3:162009207-162009208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531772879	chr3:162009210-162009211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144639831	chr3:162009233-162009234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531539547	chr3:162009239-162009240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551562501	chr3:162009270-162009271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565407287	chr3:162009271-162009272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532968639	chr3:162009313-162009314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77752314	chr3:162009357-162009358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60742261	chr3:162009374-162009375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34987665	chr3:162009390-162009391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397876573	chr3:162009392-162009393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566402701	chr3:162009509-162009510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162003400-162013200	Weak transcription	Aorta	Aorta
2	chr3:162004400-162013000	Weak transcription	Psoas Muscle	Psoas
3	chr3:162004600-162013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:162010200-162011000	Enhancers	Colon Smooth Muscle	Colon
5	chr3:162010600-162010800	Enhancers	Rectal Smooth Muscle	rectum
6	chr3:162010800-162013000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:162010800-162017200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:162011000-162013200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:162011800-162012200	Enhancers	HSMMtube	muscle
10	chr3:162012200-162012600	Weak transcription	HSMMtube	muscle

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