Variant report

Variant	esv19372
Chromosome Location	chr6:54299305-54305752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140685542	chr6:54305216-54305217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564039356	chr6:54305249-54305250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533101689	chr6:54305265-54305266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549795302	chr6:54305279-54305280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552488164	chr6:54305290-54305291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374113944	chr6:54305304-54305305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182826100	chr6:54305307-54305308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548686448	chr6:54305371-54305372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188374379	chr6:54305375-54305376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144385138	chr6:54305443-54305444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78477540	chr6:54305478-54305479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570856872	chr6:54305489-54305490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534577040	chr6:54305496-54305497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540176751	chr6:54305540-54305541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556565659	chr6:54305542-54305543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568245579	chr6:54305574-54305575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542022329	chr6:54305615-54305616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555448825	chr6:54305659-54305660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571761755	chr6:54305660-54305661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554670905	chr6:54305666-54305667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574414887	chr6:54305674-54305675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192002675	chr6:54305679-54305680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532748667	chr6:54305701-54305702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536863475	chr6:54305718-54305719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183811070	chr6:54305730-54305731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146462391	chr6:54305736-54305737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188910383	chr6:54305741-54305742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548867453	chr6:54305752-54305753	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Hodgkin''s lymphoma	17606441	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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54305200-54305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:54305200-54306000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:54305400-54305800	Enhancers	NHEK	skin
4	chr6:54305400-54306000	Enhancers	Esophagus	oesophagus

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