Variant report

Variant	esv3473662
Chromosome Location	chr6:160929011-160929452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160915674..160918470-chr6:160928618..160930503,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374588274	chr6:160929038-160929039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368776240	chr6:160929064-160929065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557727822	chr6:160929119-160929120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574367166	chr6:160929156-160929157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539886690	chr6:160929157-160929158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112748144	chr6:160929164-160929165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559792589	chr6:160929194-160929195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532109638	chr6:160929198-160929199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577863079	chr6:160929209-160929210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563070161	chr6:160929221-160929222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183921841	chr6:160929285-160929286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371445583	chr6:160929305-160929306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568700806	chr6:160929306-160929307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527666016	chr6:160929311-160929312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376099288	chr6:160929380-160929381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13197303	chr6:160929382-160929383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71033582	chr6:160929402-160929403	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182947904	chr6:160929403-160929404	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160921600-160934400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:160928000-160929200	Enhancers	HepG2	liver
3	chr6:160928200-160931600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:160929000-160929400	Enhancers	Liver	Liver
5	chr6:160929000-160931200	Weak transcription	K562	blood
6	chr6:160929200-160931400	Weak transcription	HepG2	liver
7	chr6:160929400-160931400	Flanking Active TSS	Liver	Liver

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