Variant report

Variant	esv3392614
Chromosome Location	chr6:64999684-65002578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116510104	chr6:64999701-64999702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555494240	chr6:64999725-64999726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549396992	chr6:64999744-64999745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558507901	chr6:64999763-64999764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544329535	chr6:64999769-64999770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555849183	chr6:64999809-64999810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180790983	chr6:64999821-64999822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567857603	chr6:64999826-64999827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546154945	chr6:64999858-64999859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs973266	chr6:64999871-64999872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528672357	chr6:64999876-64999877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187397557	chr6:64999880-64999881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561943503	chr6:64999889-64999890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116393399	chr6:64999933-64999934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1922958	chr6:64999964-64999965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192249129	chr6:65000009-65000010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181798680	chr6:65000012-65000013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149787438	chr6:65000019-65000020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566730316	chr6:65000055-65000056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533977626	chr6:65000062-65000063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549244100	chr6:65000088-65000089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113929568	chr6:65000099-65000100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372330478	chr6:65000119-65000120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557577988	chr6:65000156-65000157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537970214	chr6:65000212-65000213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556199739	chr6:65000235-65000236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115667960	chr6:65000319-65000320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538590351	chr6:65000346-65000347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560452923	chr6:65000367-65000368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558171629	chr6:65000394-65000395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186099814	chr6:65000406-65000407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573249454	chr6:65000420-65000421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540516001	chr6:65000436-65000437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7753480	chr6:65000452-65000453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368258258	chr6:65000528-65000529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377081993	chr6:65000540-65000541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368754684	chr6:65000546-65000547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369048862	chr6:65000550-65000551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78504253	chr6:65000572-65000573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562965199	chr6:65000573-65000574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533181016	chr6:65000602-65000603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551704908	chr6:65000636-65000637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7758780	chr6:65000666-65000667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114745592	chr6:65000692-65000693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369818704	chr6:65000697-65000698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567494414	chr6:65000787-65000788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148500974	chr6:65000794-65000795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7759081	chr6:65000821-65000822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113531045	chr6:65000857-65000858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147860367	chr6:65000859-65000860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64998600-65003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:65000600-65001200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:65000800-65001400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:65001200-65004400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:65001400-65001800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:65001800-65002200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:65002000-65002400	Enhancers	Fetal Intestine Small	intestine
8	chr6:65002000-65004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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