Variant report

Variant	esv3473999
Chromosome Location	chr6:54662522-54665922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6926885	chr6:54662538-54662539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116963060	chr6:54662559-54662560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577165382	chr6:54662562-54662563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545784720	chr6:54662596-54662597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562775914	chr6:54662633-54662634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576458676	chr6:54662636-54662637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541979444	chr6:54662637-54662638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561886841	chr6:54662646-54662647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560612104	chr6:54662669-54662670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10456688	chr6:54662693-54662694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6904875	chr6:54662706-54662707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533305407	chr6:54662707-54662708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190175979	chr6:54662748-54662749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564306581	chr6:54662786-54662787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140855099	chr6:54662806-54662807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375451637	chr6:54662851-54662852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568270481	chr6:54662880-54662881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534125434	chr6:54662889-54662890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553988230	chr6:54662942-54662943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6919743	chr6:54662944-54662945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539771137	chr6:54662945-54662946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116428955	chr6:54662953-54662954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576372589	chr6:54662956-54662957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542265486	chr6:54662967-54662968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181838788	chr6:54663013-54663014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200778909	chr6:54663020-54663021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540366536	chr6:54663052-54663053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6920088	chr6:54663064-54663065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187373487	chr6:54663067-54663068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372251054	chr6:54663070-54663071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35188104	chr6:54663085-54663086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397707110	chr6:54663086-54663087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147883326	chr6:54663142-54663143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140421137	chr6:54663164-54663165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7452200	chr6:54663168-54663169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528885057	chr6:54663182-54663183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549012383	chr6:54663189-54663190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565430229	chr6:54663190-54663191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548890895	chr6:54663255-54663256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190873932	chr6:54663281-54663282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568843931	chr6:54663294-54663295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181932045	chr6:54663393-54663394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570732096	chr6:54663433-54663434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540088683	chr6:54663525-54663526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372392930	chr6:54663541-54663542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142312873	chr6:54663561-54663562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148124532	chr6:54663569-54663570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67328469	chr6:54663570-54663571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6149593	chr6:54663572-54663573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375754224	chr6:54663573-54663574	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54653200-54667800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:54662800-54663000	Enhancers	Fetal Intestine Small	intestine
3	chr6:54663000-54667800	Weak transcription	Fetal Intestine Small	intestine
4	chr6:54664800-54665000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:54664800-54666600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr6:54665200-54666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:54665600-54666800	Active TSS	Skeletal Muscle Female	skeletal muscle

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