Variant report

Variant	esv3343822
Chromosome Location	chr6:160635870-160636868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114285861	chr6:160635885-160635886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs10945656	chr6:160635886-160635887	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182542517	chr6:160635900-160635901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185875719	chr6:160635906-160635907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533563844	chr6:160635915-160635916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553467822	chr6:160635936-160635937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147709398	chr6:160635959-160635960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558184661	chr6:160635960-160635961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113597235	chr6:160635987-160635988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12204445	chr6:160636031-160636032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548230266	chr6:160636032-160636033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372937083	chr6:160636038-160636039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191179580	chr6:160636043-160636044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542007413	chr6:160636105-160636106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12204502	chr6:160636110-160636111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530673343	chr6:160636131-160636132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527755557	chr6:160636149-160636150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182604287	chr6:160636150-160636151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564306290	chr6:160636159-160636160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552413609	chr6:160636165-160636166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2481033	chr6:160636186-160636187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77118987	chr6:160636258-160636259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185507726	chr6:160636283-160636284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190321997	chr6:160636285-160636286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182909975	chr6:160636326-160636327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140634857	chr6:160636374-160636375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150399484	chr6:160636378-160636379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533628860	chr6:160636382-160636383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543289627	chr6:160636426-160636427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536332830	chr6:160636427-160636428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570351627	chr6:160636435-160636436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79221961	chr6:160636439-160636440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373543402	chr6:160636477-160636478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556196771	chr6:160636478-160636479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138177539	chr6:160636509-160636510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375082466	chr6:160636548-160636549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12386537	chr6:160636562-160636563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs610206	chr6:160636563-160636564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541156459	chr6:160636588-160636589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145058781	chr6:160636613-160636614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533176590	chr6:160636616-160636617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77898327	chr6:160636637-160636638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563660746	chr6:160636651-160636652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564549366	chr6:160636654-160636655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187627835	chr6:160636670-160636671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75871132	chr6:160636701-160636702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554991842	chr6:160636704-160636705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540597893	chr6:160636759-160636760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547180411	chr6:160636783-160636784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs137986063	chr6:160636800-160636801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160626800-160639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:160635400-160636000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:160635800-160639800	Weak transcription	Pancreas	Pancrea
4	chr6:160636000-160636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:160636200-160636400	Enhancers	Osteobl	bone
6	chr6:160636600-160638400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:160636800-160637000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:160636800-160637000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:160636800-160637200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:160636800-160637200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:160636800-160637200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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