Variant report

Variant	nsv969482
Chromosome Location	chr6:65227435-65230587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375258107	chr6:65227438-65227439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113381847	chr6:65227450-65227451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144619743	chr6:65227456-65227457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184634055	chr6:65227464-65227465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546753916	chr6:65227521-65227522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147848796	chr6:65227534-65227535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9342308	chr6:65227555-65227556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371530499	chr6:65227563-65227564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550566706	chr6:65227627-65227628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55642727	chr6:65227628-65227629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397934912	chr6:65227634-65227635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570415807	chr6:65227664-65227665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569505879	chr6:65227666-65227667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75367584	chr6:65227682-65227683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558240187	chr6:65227687-65227688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537755739	chr6:65227714-65227715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187455135	chr6:65227760-65227761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570752918	chr6:65227773-65227774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147007554	chr6:65227818-65227819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373561065	chr6:65227841-65227842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534864400	chr6:65227843-65227844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16895428	chr6:65227906-65227907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs576381050	chr6:65227932-65227933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574889199	chr6:65227937-65227938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141485618	chr6:65228055-65228056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557327171	chr6:65228061-65228062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575545597	chr6:65228070-65228071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537464522	chr6:65228099-65228100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368177675	chr6:65228101-65228102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145222719	chr6:65228108-65228109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191902235	chr6:65228148-65228149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540455833	chr6:65228253-65228254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72874919	chr6:65228265-65228266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528995562	chr6:65228305-65228306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184906728	chr6:65228318-65228319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140842646	chr6:65228333-65228334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111412446	chr6:65228355-65228356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115813408	chr6:65228359-65228360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542154198	chr6:65228374-65228375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560081634	chr6:65228376-65228377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534949326	chr6:65228377-65228378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546796679	chr6:65228382-65228383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56310524	chr6:65228441-65228442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs72874921	chr6:65228443-65228444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72874924	chr6:65228444-65228445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545933412	chr6:65228452-65228453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575628085	chr6:65228482-65228483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568030767	chr6:65228497-65228498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558157897	chr6:65228508-65228509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111927455	chr6:65228545-65228546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164920	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65226800-65228000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:65228000-65229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:65229200-65232000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:65229400-65230000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:65229400-65231000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:65229400-65231000	Enhancers	HUVEC	blood vessel
7	chr6:65229400-65231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:65229400-65231400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:65229400-65231400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:65229400-65231400	Enhancers	HMEC	breast
11	chr6:65229600-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:65229600-65230000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:65229600-65230200	Enhancers	HSMMtube	muscle
14	chr6:65229600-65230400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:65229600-65231000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:65229600-65231000	Enhancers	NHEK	skin
17	chr6:65229800-65230200	Enhancers	Osteobl	bone
18	chr6:65229800-65230600	Enhancers	Hela-S3	cervix
19	chr6:65229800-65231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:65229800-65231000	Enhancers	HSMM	muscle
21	chr6:65229800-65231200	Enhancers	NH-A	brain
22	chr6:65230000-65231000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:65230000-65231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:65230200-65230600	Weak transcription	HSMMtube	muscle

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