Variant report

Variant	esv3366857
Chromosome Location	chr6:159875268-159878543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs144931492	chr6:159875269-159875270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149062979	chr6:159875285-159875286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560193006	chr6:159875294-159875295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145086182	chr6:159875295-159875296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552321682	chr6:159875296-159875297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568911557	chr6:159875301-159875302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531440008	chr6:159875337-159875338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548356186	chr6:159875346-159875347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568307677	chr6:159875437-159875438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138964728	chr6:159875439-159875440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10945615	chr6:159875444-159875445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529905660	chr6:159875453-159875454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570525025	chr6:159875473-159875474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373218786	chr6:159875513-159875514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539421930	chr6:159875516-159875517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556413294	chr6:159875526-159875527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139598017	chr6:159875532-159875533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542101812	chr6:159875541-159875542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555925588	chr6:159875574-159875575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377028509	chr6:159875593-159875594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565142235	chr6:159875599-159875600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532156631	chr6:159875760-159875761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572625590	chr6:159875775-159875776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541757825	chr6:159875784-159875785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551992331	chr6:159875827-159875828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148176057	chr6:159875849-159875850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532171800	chr6:159875885-159875886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545797771	chr6:159875893-159875894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138020382	chr6:159875909-159875910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562484257	chr6:159875972-159875973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531431639	chr6:159875978-159875979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141829513	chr6:159876000-159876001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13209992	chr6:159876009-159876010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6926782	chr6:159876028-159876029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34392050	chr6:159876032-159876033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150620839	chr6:159876045-159876046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113011271	chr6:159876073-159876074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570393838	chr6:159876142-159876143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539484902	chr6:159876155-159876156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139743094	chr6:159876166-159876167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143121464	chr6:159876192-159876193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535948510	chr6:159876207-159876208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6931870	chr6:159876227-159876228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572695891	chr6:159876235-159876236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541616334	chr6:159876247-159876248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567979864	chr6:159876274-159876275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367768854	chr6:159876303-159876304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578247661	chr6:159876328-159876329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545526806	chr6:159876331-159876332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147181031	chr6:159876337-159876338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:159867000-159876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:159872200-159877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:159872200-159881000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:159872400-159875600	Weak transcription	Aorta	Aorta
5	chr6:159872400-159876400	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:159872600-159877200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:159872600-159882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:159873600-159876200	Weak transcription	Fetal Stomach	stomach
9	chr6:159876200-159876400	Enhancers	Fetal Stomach	stomach
10	chr6:159876200-159877200	Enhancers	Spleen	Spleen
11	chr6:159876400-159876600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr6:159876400-159877400	Enhancers	Fetal Muscle Leg	muscle
13	chr6:159876600-159876800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:159876600-159877400	Enhancers	Ovary	ovary
15	chr6:159876800-159884800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:159877000-159877400	Enhancers	Adipose Nuclei	Adipose
17	chr6:159877000-159878000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:159877200-159877400	Enhancers	Liver	Liver
19	chr6:159877200-159877400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr6:159877200-159877600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:159877200-159877800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:159877400-159881000	Weak transcription	Ovary	ovary
23	chr6:159877400-159881600	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:159877600-159883200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:159877800-159881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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