Variant report

Variant	esv3430698
Chromosome Location	chr6:131277137-131277478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374125051	chr6:131277156-131277157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538206789	chr6:131277159-131277160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199736215	chr6:131277181-131277182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377675747	chr6:131277256-131277257	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138944177	chr6:131277274-131277275	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201431851	chr6:131277282-131277283	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370569985	chr6:131277287-131277288	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149339129	chr6:131277349-131277350	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373413431	chr6:131277389-131277390	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144686133	chr6:131277390-131277391	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553971623	chr6:131277400-131277401	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139590826	chr6:131277417-131277418	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72983784	chr6:131277420-131277421	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146101782	chr6:131277444-131277445	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs202166140	chr6:131277445-131277446	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370441861	chr6:131277447-131277448	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139295986	chr6:131277448-131277449	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199613072	chr6:131277455-131277456	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142641130	chr6:131277472-131277473	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131244200-131279000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
5	chr6:131255800-131277400	Weak transcription	Psoas Muscle	Psoas
6	chr6:131256000-131279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:131257400-131281800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:131260000-131286200	Weak transcription	HSMMtube	muscle
9	chr6:131264800-131277800	Weak transcription	Gastric	stomach
10	chr6:131266000-131280600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:131266000-131283800	Weak transcription	Lung	lung
12	chr6:131266000-131287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:131266800-131277200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:131266800-131287200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:131267000-131286000	Weak transcription	Brain Angular Gyrus	brain
16	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:131267200-131277200	Weak transcription	Small Intestine	intestine
18	chr6:131267200-131281200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:131267200-131282200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:131267400-131279600	Weak transcription	HMEC	breast
21	chr6:131267400-131280200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:131267400-131281600	Weak transcription	GM12878-XiMat	blood
23	chr6:131267400-131286000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:131267400-131287200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:131267600-131284000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:131267600-131287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:131267800-131286000	Weak transcription	NHDF-Ad	bronchial
28	chr6:131267800-131288200	Weak transcription	NH-A	brain
29	chr6:131268200-131279400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:131268400-131279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:131268400-131280600	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:131268400-131287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:131269000-131290400	Weak transcription	Right Ventricle	heart
34	chr6:131269400-131286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:131271000-131279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:131271400-131279600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
38	chr6:131272400-131281800	Weak transcription	Fetal Thymus	thymus
39	chr6:131272600-131277600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:131272600-131277600	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:131272800-131277600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:131272800-131277800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:131272800-131289000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:131273000-131277200	Strong transcription	HSMM	muscle
45	chr6:131273200-131277600	Strong transcription	Fetal Lung	lung
46	chr6:131273600-131277600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:131274400-131277600	Strong transcription	NHLF	lung
48	chr6:131274400-131289000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:131274600-131279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:131274800-131279000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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