Variant report

Variant	esv3360867
Chromosome Location	chr6:54076734-54077261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557485824	chr6:54076742-54076743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574080067	chr6:54076745-54076746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574186414	chr6:54076786-54076787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543058659	chr6:54076794-54076795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553347638	chr6:54076816-54076817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562945808	chr6:54076822-54076823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145758734	chr6:54076887-54076888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373693270	chr6:54076906-54076907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565274165	chr6:54076948-54076949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531002307	chr6:54076949-54076950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184667020	chr6:54076956-54076957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77967712	chr6:54076973-54076974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7759151	chr6:54076985-54076986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565448130	chr6:54077039-54077040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1775795	chr6:54077073-54077074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187941636	chr6:54077090-54077091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532044573	chr6:54077155-54077156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192980554	chr6:54077214-54077215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184864772	chr6:54077215-54077216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537993870	chr6:54077251-54077252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
3	chr6:54070200-54098800	Weak transcription	Fetal Heart	heart
4	chr6:54070400-54095200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54076400-54076800	Enhancers	Brain Anterior Caudate	brain
6	chr6:54076400-54077000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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