Variant report

Variant	esv10471
Chromosome Location	chr6:58606544-58608219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190889060	chr6:58607003-58607004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552320831	chr6:58607008-58607009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570832152	chr6:58607009-58607010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558868457	chr6:58607027-58607028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528715226	chr6:58607045-58607046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7766102	chr6:58607056-58607057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572393076	chr6:58607057-58607058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184000070	chr6:58607070-58607071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568433344	chr6:58607086-58607087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532010886	chr6:58607095-58607096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148665480	chr6:58607098-58607099	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188842391	chr6:58607102-58607103	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143441629	chr6:58607125-58607126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193053826	chr6:58607208-58607209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541284086	chr6:58607231-58607232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377479841	chr6:58607232-58607233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574662183	chr6:58607244-58607245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558736532	chr6:58607246-58607247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577217847	chr6:58607269-58607270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186868914	chr6:58607270-58607271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552737539	chr6:58607290-58607291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191654568	chr6:58607307-58607308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2693074	chr6:58607308-58607309	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs552016973	chr6:58607313-58607314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574969381	chr6:58607322-58607323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113931506	chr6:58607334-58607335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546171626	chr6:58607362-58607363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377635934	chr6:58607377-58607378	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564301324	chr6:58607385-58607386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528824944	chr6:58607386-58607387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140220144	chr6:58607389-58607390	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
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
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58607000-58607400	Active TSS	Stomach Mucosa	stomach

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