Variant report

Variant	esv17513
Chromosome Location	chr6:48745206-48753735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 341 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561976410	chr6:48745231-48745232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573884704	chr6:48745234-48745235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115200342	chr6:48745266-48745267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150575794	chr6:48745272-48745273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532932087	chr6:48745277-48745278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551070103	chr6:48745289-48745290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113346261	chr6:48745292-48745293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116726434	chr6:48745314-48745315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2997368	chr6:48745324-48745325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568618794	chr6:48745339-48745340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73486461	chr6:48745345-48745346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144183018	chr6:48745347-48745348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565952332	chr6:48745364-48745365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146071311	chr6:48745366-48745367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558301434	chr6:48745387-48745388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117327153	chr6:48745397-48745398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566838786	chr6:48745400-48745401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535611422	chr6:48745402-48745403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140066105	chr6:48745471-48745472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116103111	chr6:48745482-48745483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149811489	chr6:48745496-48745497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541007244	chr6:48745503-48745504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115133449	chr6:48745505-48745506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577568560	chr6:48745587-48745588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544569804	chr6:48745631-48745632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114305266	chr6:48745644-48745645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544352607	chr6:48745665-48745666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530549634	chr6:48745666-48745667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558040078	chr6:48745694-48745695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79993572	chr6:48745708-48745709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562187719	chr6:48745720-48745721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529451615	chr6:48745721-48745722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7739538	chr6:48745767-48745768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566332510	chr6:48745785-48745786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558625951	chr6:48745798-48745799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34539739	chr6:48745892-48745893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570327190	chr6:48745906-48745907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533377364	chr6:48745910-48745911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34953414	chr6:48745921-48745922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577883183	chr6:48745933-48745934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115485361	chr6:48746008-48746009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570042081	chr6:48746042-48746043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537588625	chr6:48746054-48746055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142924938	chr6:48746121-48746122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567358141	chr6:48746135-48746136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534768189	chr6:48746155-48746156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553009052	chr6:48746182-48746183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151109059	chr6:48746195-48746196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544882400	chr6:48746199-48746200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374261775	chr6:48746228-48746229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48742800-48746200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:48742800-48746200	Enhancers	NHEK	skin
3	chr6:48744000-48745800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:48744400-48746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:48744800-48746200	Enhancers	HMEC	breast
6	chr6:48745000-48745800	Enhancers	Esophagus	oesophagus
7	chr6:48745800-48746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:48746000-48752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:48746200-48746600	Weak transcription	HMEC	breast
10	chr6:48746600-48747000	Enhancers	HMEC	breast
11	chr6:48747000-48747200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:48750000-48750200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:48750200-48751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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