Variant report

Variant	esv3472557
Chromosome Location	chr6:49281695-49295113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 505 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536079034	chr6:49281714-49281715	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2143730	chr6:49281723-49281724	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569580247	chr6:49281724-49281725	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574140471	chr6:49281755-49281756	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186614188	chr6:49281806-49281807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191146850	chr6:49281868-49281869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577749865	chr6:49281903-49281904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77800740	chr6:49281933-49281934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183696138	chr6:49281958-49281959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539219544	chr6:49281987-49281988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558847019	chr6:49282008-49282009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551476	chr6:49282013-49282014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs145878034	chr6:49282024-49282025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148577567	chr6:49282074-49282075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373511997	chr6:49282106-49282107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571350264	chr6:49282107-49282108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532213559	chr6:49282108-49282109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4295476	chr6:49282121-49282122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571268520	chr6:49282139-49282140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568827961	chr6:49282156-49282157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536281883	chr6:49282159-49282160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555778623	chr6:49282182-49282183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188594095	chr6:49282221-49282222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6458682	chr6:49282256-49282257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534890587	chr6:49282267-49282268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374097562	chr6:49282280-49282281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142516345	chr6:49282297-49282298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538700780	chr6:49282314-49282315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557045926	chr6:49282317-49282318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575541391	chr6:49282319-49282320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553849788	chr6:49282341-49282342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543056776	chr6:49282347-49282348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561004966	chr6:49282362-49282363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573640423	chr6:49282380-49282381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193264243	chr6:49282441-49282442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78220776	chr6:49282463-49282464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78190629	chr6:49282474-49282475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376813161	chr6:49282487-49282488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573127875	chr6:49282514-49282515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540552072	chr6:49282571-49282572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73423827	chr6:49282587-49282588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532353254	chr6:49282656-49282657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550683289	chr6:49282657-49282658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185126374	chr6:49282699-49282700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145903580	chr6:49282700-49282701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548202128	chr6:49282703-49282704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147791986	chr6:49282724-49282725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542836421	chr6:49282788-49282789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534957707	chr6:49282831-49282832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546892373	chr6:49282838-49282839	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49281000-49281800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49281800-49283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:49283400-49285000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:49285000-49293600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:49286800-49288400	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:49287000-49287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:49288400-49293800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:49289400-49290200	Enhancers	Fetal Lung	lung
9	chr6:49290200-49293600	Weak transcription	Fetal Lung	lung
10	chr6:49292600-49293600	Enhancers	HUVEC	blood vessel
11	chr6:49293000-49293800	Enhancers	NHEK	skin
12	chr6:49293200-49295400	Enhancers	HMEC	breast
13	chr6:49293400-49293800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:49293400-49293800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:49293400-49294400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:49293400-49294600	Enhancers	Osteobl	bone
17	chr6:49293400-49295200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:49293400-49295200	Enhancers	Hela-S3	cervix
19	chr6:49293600-49293800	Enhancers	NHDF-Ad	bronchial
20	chr6:49293600-49294000	Flanking Active TSS	HUVEC	blood vessel
21	chr6:49293600-49294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:49293600-49295400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:49293600-49295400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:49293600-49295800	Enhancers	HSMM	muscle
25	chr6:49293600-49296200	Enhancers	Fetal Lung	lung
26	chr6:49293800-49294000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:49293800-49294000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:49293800-49294000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:49293800-49294000	Flanking Active TSS	NHEK	skin
30	chr6:49293800-49294200	Enhancers	Adipose Nuclei	Adipose
31	chr6:49293800-49294200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:49293800-49294200	Active TSS	Fetal Brain Male	brain
33	chr6:49293800-49294200	Enhancers	Fetal Kidney	kidney
34	chr6:49293800-49294200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr6:49293800-49294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:49293800-49294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:49293800-49295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:49293800-49295200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:49293800-49295400	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:49293800-49295400	Enhancers	NH-A	brain
41	chr6:49293800-49295600	Enhancers	NHLF	lung
42	chr6:49294000-49294200	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:49294000-49294400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:49294000-49294800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:49294000-49295000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:49294000-49295200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:49294000-49295800	Enhancers	NHEK	skin
48	chr6:49294000-49296200	Enhancers	HUVEC	blood vessel
49	chr6:49294200-49294800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:49294200-49295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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