Variant report

Variant	nsv610002
Chromosome Location	chr8:6211581-6214753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs17599287	chr8:6211581-6211582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112135335	chr8:6211592-6211593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185535274	chr8:6211596-6211597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571278775	chr8:6211602-6211603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374966795	chr8:6211612-6211613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2920642	chr8:6211619-6211620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550699638	chr8:6211649-6211650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567889277	chr8:6211657-6211658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547592033	chr8:6211665-6211666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2920641	chr8:6211679-6211680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572922882	chr8:6211748-6211749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538938123	chr8:6211784-6211785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190642227	chr8:6211789-6211790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139445061	chr8:6211796-6211797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375623806	chr8:6211830-6211831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538521403	chr8:6211850-6211851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561088336	chr8:6211851-6211852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2166007	chr8:6211852-6211853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2916704	chr8:6211859-6211860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560761314	chr8:6211869-6211870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1550695	chr8:6211871-6211872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17599378	chr8:6211879-6211880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74800147	chr8:6211900-6211901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17599420	chr8:6211908-6211909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1550694	chr8:6211985-6211986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs372961463	chr8:6212009-6212010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550578518	chr8:6212011-6212012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567276742	chr8:6212031-6212032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2916703	chr8:6212050-6212051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144084828	chr8:6212067-6212068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566666244	chr8:6212095-6212096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542727029	chr8:6212146-6212147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181741864	chr8:6212165-6212166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186918784	chr8:6212192-6212193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192071375	chr8:6212201-6212202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183971266	chr8:6212203-6212204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556263805	chr8:6212260-6212261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146500135	chr8:6212280-6212281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186036001	chr8:6212305-6212306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12056733	chr8:6212422-6212423	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577372869	chr8:6212430-6212431	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546417348	chr8:6212446-6212447	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35513920	chr8:6212449-6212450	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190894342	chr8:6212471-6212472	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532019536	chr8:6212473-6212474	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149056553	chr8:6212482-6212483	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560953501	chr8:6212483-6212484	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115420075	chr8:6212486-6212487	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143081171	chr8:6212491-6212492	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566439772	chr8:6212513-6212514	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6200000-6216600	Weak transcription	Pancreas	Pancrea
2	chr8:6209200-6212200	Weak transcription	Fetal Stomach	stomach
3	chr8:6212200-6212400	Enhancers	Small Intestine	intestine
4	chr8:6212200-6212600	Enhancers	Fetal Brain Female	brain
5	chr8:6212200-6213400	Enhancers	Fetal Stomach	stomach
6	chr8:6212200-6213600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:6212400-6212800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:6212400-6212800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:6212400-6212800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:6212400-6212800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr8:6212400-6212800	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:6212600-6212800	Enhancers	Gastric	stomach
13	chr8:6212800-6216600	Weak transcription	Gastric	stomach
14	chr8:6212800-6218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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