Variant report

Variant	esv3404455
Chromosome Location	chr6:48799243-48802691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185754584	chr6:48799262-48799263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542462709	chr6:48799294-48799295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560694738	chr6:48799338-48799339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527869758	chr6:48799363-48799364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552944117	chr6:48799365-48799366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564795839	chr6:48799373-48799374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72872366	chr6:48799382-48799383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529742769	chr6:48799387-48799388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550111223	chr6:48799405-48799406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568479841	chr6:48799438-48799439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374836880	chr6:48799443-48799444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141502595	chr6:48799444-48799445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75978147	chr6:48799458-48799459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549532840	chr6:48799479-48799480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114964619	chr6:48799506-48799507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72872368	chr6:48799510-48799511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532116802	chr6:48799525-48799526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565582674	chr6:48799530-48799531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536662464	chr6:48799554-48799555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189731149	chr6:48799569-48799570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534498224	chr6:48799581-48799582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541161506	chr6:48799593-48799594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200858121	chr6:48799623-48799624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559631614	chr6:48799626-48799627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373513560	chr6:48799630-48799631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71002624	chr6:48799648-48799649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398065781	chr6:48799654-48799655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569468731	chr6:48799670-48799671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538482223	chr6:48799695-48799696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376383578	chr6:48799701-48799702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376406662	chr6:48799737-48799738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200734957	chr6:48799740-48799741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372425078	chr6:48799749-48799750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71002625	chr6:48799750-48799751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370382125	chr6:48799751-48799752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571518419	chr6:48799765-48799766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374788347	chr6:48799766-48799767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559479057	chr6:48799806-48799807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572722299	chr6:48799808-48799809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546370317	chr6:48799810-48799811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182738229	chr6:48799819-48799820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112050303	chr6:48799827-48799828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10948444	chr6:48799835-48799836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192249184	chr6:48799912-48799913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376972243	chr6:48800002-48800003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374115162	chr6:48800006-48800007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367699415	chr6:48800008-48800009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370005807	chr6:48800029-48800030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28758184	chr6:48800032-48800033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371332838	chr6:48800033-48800034	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	chr6:48796400-48801000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:48796400-48802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:48796400-48803000	Weak transcription	NHDF-Ad	bronchial
4	chr6:48796600-48802600	Weak transcription	HMEC	breast
5	chr6:48797000-48803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:48797400-48802800	Weak transcription	Hela-S3	cervix
7	chr6:48797400-48806800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:48801000-48804600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:48802200-48803800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:48802200-48803800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:48802400-48803000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:48802600-48803800	Enhancers	HMEC	breast
13	chr6:48802600-48805200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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