Variant report

Variant	nsv7987
Chromosome Location	chr6:161175192-161176650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557242113	chr6:161175245-161175246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145698718	chr6:161175250-161175251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190826796	chr6:161175288-161175289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552610179	chr6:161175399-161175400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370479611	chr6:161175427-161175428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148517610	chr6:161175438-161175439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370720553	chr6:161175445-161175446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373556469	chr6:161175447-161175448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529269943	chr6:161175468-161175469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367729174	chr6:161175562-161175563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546103220	chr6:161175568-161175569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183012300	chr6:161175570-161175571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188035986	chr6:161175577-161175578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575881624	chr6:161175578-161175579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544866646	chr6:161175604-161175605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561171617	chr6:161175654-161175655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530108203	chr6:161175673-161175674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562649911	chr6:161175716-161175717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4252200	chr6:161175721-161175722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146569158	chr6:161175730-161175731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141300448	chr6:161175745-161175746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs813022	chr6:161175769-161175770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551251310	chr6:161175787-161175788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571400927	chr6:161175813-161175814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536994261	chr6:161175860-161175861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550846014	chr6:161175886-161175887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145411150	chr6:161175889-161175890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146498245	chr6:161175909-161175910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562749317	chr6:161175910-161175911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192458302	chr6:161175914-161175915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566197947	chr6:161175916-161175917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541919075	chr6:161175957-161175958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182666718	chr6:161175979-161175980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558913169	chr6:161176010-161176011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187747927	chr6:161176011-161176012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375235275	chr6:161176031-161176032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371059486	chr6:161176061-161176062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544619077	chr6:161176080-161176081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60089098	chr6:161176081-161176082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555261207	chr6:161176106-161176107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574885910	chr6:161176135-161176136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540600889	chr6:161176140-161176141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560582273	chr6:161176172-161176173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561582410	chr6:161176175-161176176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375678923	chr6:161176190-161176191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9458023	chr6:161176256-161176257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs546277456	chr6:161176271-161176272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78224061	chr6:161176339-161176340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192724507	chr6:161176347-161176348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184683654	chr6:161176352-161176353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161140800-161175200	Strong transcription	Liver	Liver
2	chr6:161169600-161181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161171400-161187800	Weak transcription	Pancreas	Pancrea
4	chr6:161171800-161176400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:161171800-161176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:161175000-161175200	Bivalent Enhancer	Fetal Brain Female	brain
7	chr6:161175200-161178800	Weak transcription	Liver	Liver
8	chr6:161176400-161176800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:161176400-161176800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:161176400-161177000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:161176400-161177200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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