Variant report

Variant	nsv525523
Chromosome Location	chr6:67977143-68012119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12525361	chr6:67977143-67977144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35973648	chr6:67977152-67977153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188277248	chr6:67977170-67977171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574597553	chr6:67977174-67977175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536812030	chr6:67977199-67977200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193275056	chr6:67977218-67977219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139823762	chr6:67977290-67977291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528318343	chr6:67977293-67977294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545494325	chr6:67977310-67977311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4358597	chr6:67977326-67977327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572492446	chr6:67977353-67977354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374316884	chr6:67977366-67977367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542146838	chr6:67977367-67977368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368202194	chr6:67977378-67977379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141492889	chr6:67977435-67977436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531141669	chr6:67977470-67977471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530671863	chr6:67977476-67977477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550846565	chr6:67977497-67977498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116498820	chr6:67977498-67977499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146162794	chr6:67977499-67977500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547099572	chr6:67977509-67977510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566899688	chr6:67977531-67977532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372756828	chr6:67977539-67977540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535819379	chr6:67977573-67977574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60727209	chr6:67977576-67977577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35823821	chr6:67977578-67977579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537253719	chr6:67977584-67977585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2168928	chr6:67977585-67977586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151063962	chr6:67977593-67977594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71268331	chr6:67977594-67977595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398110225	chr6:67977603-67977604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576961368	chr6:67977608-67977609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539185440	chr6:67977619-67977620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72889885	chr6:67977627-67977628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554650688	chr6:67977635-67977636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567065026	chr6:67977661-67977662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376461841	chr6:67977691-67977692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140169476	chr6:67977702-67977703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562407392	chr6:67977708-67977709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1903054	chr6:67977723-67977724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115961473	chr6:67977725-67977726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376636294	chr6:67977748-67977749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114351900	chr6:67977785-67977786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115673594	chr6:67977786-67977787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577637779	chr6:67977801-67977802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547136539	chr6:67977833-67977834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560538604	chr6:67977843-67977844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149836873	chr6:67977847-67977848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62419036	chr6:67977849-67977850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549061228	chr6:67977865-67977866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67975200-67977600	Weak transcription	Right Atrium	heart
2	chr6:67976600-67978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:67976800-67978000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:67977800-67978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:67978000-67978400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:67978000-67978400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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