Variant report

Variant	esv3463073
Chromosome Location	chr3:191011211-191013668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367990662	chr3:191011212-191011213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538660054	chr3:191011216-191011217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115156288	chr3:191011220-191011221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78692783	chr3:191011345-191011346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534377703	chr3:191011411-191011412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112937783	chr3:191011436-191011437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574256992	chr3:191011468-191011469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62288525	chr3:191011492-191011493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34670047	chr3:191011514-191011515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577047983	chr3:191011515-191011516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13078168	chr3:191011520-191011521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187440773	chr3:191011526-191011527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9290984	chr3:191011543-191011544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558739319	chr3:191011546-191011547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78483592	chr3:191011624-191011625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575990461	chr3:191011633-191011634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141771784	chr3:191011635-191011636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530357665	chr3:191011636-191011637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11720878	chr3:191011652-191011653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570352856	chr3:191011659-191011660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11720880	chr3:191011667-191011668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551768150	chr3:191011670-191011671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565298806	chr3:191011717-191011718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9826406	chr3:191011732-191011733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs297368	chr3:191011758-191011759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539463965	chr3:191011770-191011771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143746947	chr3:191011790-191011791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368504721	chr3:191011807-191011808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556857638	chr3:191011813-191011814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553290199	chr3:191011828-191011829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577090024	chr3:191011837-191011838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545745518	chr3:191011853-191011854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201832250	chr3:191011913-191011914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67420603	chr3:191011926-191011927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386398891	chr3:191011933-191011934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35925883	chr3:191011936-191011937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558994617	chr3:191011939-191011940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572518910	chr3:191011976-191011977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541426438	chr3:191012000-191012001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561401465	chr3:191012058-191012059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117637123	chr3:191012062-191012063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560634975	chr3:191012142-191012143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544015528	chr3:191012148-191012149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563694262	chr3:191012160-191012161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146330195	chr3:191012164-191012165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553180326	chr3:191012166-191012167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574778727	chr3:191012169-191012170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542155334	chr3:191012173-191012174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530381536	chr3:191012178-191012179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547768940	chr3:191012193-191012194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191009000-191017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:191009000-191018400	Enhancers	Primary B cells from cord blood	blood
3	chr3:191010200-191021000	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:191011000-191013000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:191011000-191013600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:191013000-191013600	Enhancers	GM12878-XiMat	blood
7	chr3:191013000-191014400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:191013600-191014400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr3:191013600-191014800	Flanking Active TSS	GM12878-XiMat	blood

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