Variant report

Variant	esv2760989
Chromosome Location	chr6:160628807-160637239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565797680	chr6:160628813-160628814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528167672	chr6:160628815-160628816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147732713	chr6:160628820-160628821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114383285	chr6:160628857-160628858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571247833	chr6:160628870-160628871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537392245	chr6:160628897-160628898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3861973	chr6:160628905-160628906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567505335	chr6:160628915-160628916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535342454	chr6:160628954-160628955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565170846	chr6:160628964-160628965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554835084	chr6:160628977-160628978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538758507	chr6:160628978-160628979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138390022	chr6:160629004-160629005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73600458	chr6:160629007-160629008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545074898	chr6:160629088-160629089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377191881	chr6:160629140-160629141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575003444	chr6:160629151-160629152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79252613	chr6:160629160-160629161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142977190	chr6:160629182-160629183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191432464	chr6:160629192-160629193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540494530	chr6:160629195-160629196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181563625	chr6:160629223-160629224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541796733	chr6:160629229-160629230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560650306	chr6:160629336-160629337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528230806	chr6:160629346-160629347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148015788	chr6:160629355-160629356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557070947	chr6:160629373-160629374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551493431	chr6:160629408-160629409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs685217	chr6:160629442-160629443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530428769	chr6:160629480-160629481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146130886	chr6:160629528-160629529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550507638	chr6:160629593-160629594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187026216	chr6:160629596-160629597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536518272	chr6:160629635-160629636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546416968	chr6:160629645-160629646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566312901	chr6:160629703-160629704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538785312	chr6:160629719-160629720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34570321	chr6:160629760-160629761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558620754	chr6:160629771-160629772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75007526	chr6:160629772-160629773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191909090	chr6:160629808-160629809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537869446	chr6:160629809-160629810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554923482	chr6:160629824-160629825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3127604	chr6:160629825-160629826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77941231	chr6:160629829-160629830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540908795	chr6:160629858-160629859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560708855	chr6:160629866-160629867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368974074	chr6:160629879-160629880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577511979	chr6:160629885-160629886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556866	chr6:160629960-160629961	Weak transcription	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
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:19 , 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
12	chr6:160637000-160637200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:160637000-160637400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:160637000-160639000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:160637200-160637400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:160637200-160637400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:160637200-160638200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:160637200-160639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:160637200-160639800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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