Variant report

Variant	esv3395077
Chromosome Location	chr6:1674190-1674952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534561802	chr6:1674210-1674211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146978585	chr6:1674232-1674233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534547946	chr6:1674253-1674254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6912355	chr6:1674286-1674287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116302763	chr6:1674288-1674289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557016173	chr6:1674291-1674292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573643778	chr6:1674300-1674301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543312233	chr6:1674334-1674335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559747057	chr6:1674342-1674343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76308573	chr6:1674394-1674395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557811016	chr6:1674474-1674475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4552776	chr6:1674504-1674505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545319834	chr6:1674510-1674511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573742190	chr6:1674511-1674512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6936424	chr6:1674518-1674519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147628199	chr6:1674529-1674530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149109901	chr6:1674546-1674547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567339196	chr6:1674575-1674576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530003433	chr6:1674597-1674598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572642626	chr6:1674602-1674603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191460516	chr6:1674604-1674605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538257156	chr6:1674635-1674636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565876093	chr6:1674640-1674641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143164453	chr6:1674651-1674652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558011063	chr6:1674682-1674683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77829407	chr6:1674729-1674730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564868534	chr6:1674763-1674764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201112863	chr6:1674791-1674792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532284936	chr6:1674792-1674793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536167658	chr6:1674794-1674795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577706110	chr6:1674796-1674797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537157123	chr6:1674851-1674852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148274002	chr6:1674852-1674853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141136326	chr6:1674857-1674858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542302647	chr6:1674869-1674870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552926563	chr6:1674876-1674877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9392318	chr6:1674920-1674921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12525117	chr6:1674948-1674949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56833272	chr6:1674949-1674950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34359136	chr6:1674950-1674951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1633000-1679800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:1651600-1679200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:1651800-1678400	Weak transcription	Aorta	Aorta
4	chr6:1667800-1687800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:1671400-1679600	Weak transcription	HepG2	liver
6	chr6:1671600-1679600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:1671800-1678600	Weak transcription	Esophagus	oesophagus
8	chr6:1672600-1674600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:1672600-1680400	Weak transcription	Fetal Thymus	thymus
10	chr6:1673200-1678400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:1673200-1678800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:1673400-1678600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:1673600-1678600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:1674000-1678600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:1674000-1679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:1674000-1679800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:1674600-1677400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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