Variant report

Variant	esv3339720
Chromosome Location	chr6:160720198-160720551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7747292	chr6:160720209-160720210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367967487	chr6:160720211-160720212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs678413	chr6:160720212-160720213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371342073	chr6:160720216-160720217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372015533	chr6:160720228-160720229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149882974	chr6:160720229-160720230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148205130	chr6:160720230-160720231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114785002	chr6:160720231-160720232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116890233	chr6:160720232-160720233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373740767	chr6:160720235-160720236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139752981	chr6:160720236-160720237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372130202	chr6:160720238-160720239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144672995	chr6:160720239-160720240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57016469	chr6:160720240-160720241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57456944	chr6:160720241-160720242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376973690	chr6:160720242-160720243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113760830	chr6:160720244-160720245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367544909	chr6:160720246-160720247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142807414	chr6:160720247-160720248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369615999	chr6:160720260-160720261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386707802	chr6:160720261-160720262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372435369	chr6:160720264-160720265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377221364	chr6:160720265-160720266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369689838	chr6:160720267-160720268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114761858	chr6:160720268-160720269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377100091	chr6:160720279-160720280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372312110	chr6:160720283-160720284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66629748	chr6:160720288-160720289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377012758	chr6:160720291-160720292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368185446	chr6:160720326-160720327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201196695	chr6:160720342-160720343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184218622	chr6:160720345-160720346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368154884	chr6:160720349-160720350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7768243	chr6:160720352-160720353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199678548	chr6:160720360-160720361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369339049	chr6:160720368-160720369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376584627	chr6:160720394-160720395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111818415	chr6:160720405-160720406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558028681	chr6:160720410-160720411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537789227	chr6:160720425-160720426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11452007	chr6:160720426-160720427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112247285	chr6:160720429-160720430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113074333	chr6:160720431-160720432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559430931	chr6:160720433-160720434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370171132	chr6:160720434-160720435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373241630	chr6:160720442-160720443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528604504	chr6:160720466-160720467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139118949	chr6:160720505-160720506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547187913	chr6:160720512-160720513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560535	chr6:160720531-160720532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160710400-160721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:160715200-160720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:160715400-160720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:160715400-160720600	Weak transcription	HMEC	breast
5	chr6:160715400-160720600	Weak transcription	NHEK	skin
6	chr6:160715400-160721800	Weak transcription	HSMMtube	muscle
7	chr6:160715600-160720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:160718400-160723600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:160718600-160720800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:160719200-160721400	Weak transcription	Aorta	Aorta
11	chr6:160719200-160721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:160719800-160722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:160720000-160720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:160720200-160720600	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:160720200-160721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:160720400-160720600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:160720400-160720800	Enhancers	Hela-S3	cervix
18	chr6:160720400-160721000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:160720400-160721800	Enhancers	HUES48 Cell Line	embryonic stem cell

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