Variant report

Variant	esv9893
Chromosome Location	chr6:63141271-63155169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 421 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551029534	chr6:63146407-63146408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375741327	chr6:63146420-63146421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574483536	chr6:63146423-63146424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191212857	chr6:63146428-63146429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs9346433	chr6:63146470-63146471	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553570619	chr6:63146482-63146483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567056183	chr6:63146499-63146500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534173771	chr6:63146522-63146523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555428591	chr6:63146525-63146526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375958261	chr6:63146546-63146547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573687377	chr6:63146548-63146549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543781436	chr6:63146580-63146581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201225344	chr6:63146585-63146586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183756171	chr6:63146620-63146621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544914568	chr6:63146625-63146626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2492811	chr6:63146640-63146641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527480633	chr6:63146656-63146657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147044747	chr6:63146669-63146670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189301249	chr6:63146681-63146682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529435983	chr6:63146685-63146686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181718554	chr6:63146686-63146687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550959977	chr6:63146720-63146721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs114068549	chr6:63146737-63146738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533618421	chr6:63146754-63146755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187428268	chr6:63146787-63146788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549464816	chr6:63146793-63146794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567090008	chr6:63146802-63146803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545725601	chr6:63146811-63146812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534387164	chr6:63146840-63146841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9346434	chr6:63146841-63146842	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189851403	chr6:63146850-63146851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531654154	chr6:63146878-63146879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376464059	chr6:63146897-63146898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138307634	chr6:63146917-63146918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs552464251	chr6:63146967-63146968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577223602	chr6:63146975-63146976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115640572	chr6:63146982-63146983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554026963	chr6:63146985-63146986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534965131	chr6:63146996-63146997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs143804063	chr6:63147034-63147035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542785265	chr6:63147113-63147114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143292710	chr6:63147131-63147132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574142029	chr6:63147143-63147144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544720544	chr6:63147147-63147148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563017691	chr6:63147150-63147151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9346435	chr6:63147160-63147161	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78951528	chr6:63147170-63147171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560816142	chr6:63147178-63147179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371971977	chr6:63147188-63147189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201839215	chr6:63147191-63147192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	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
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63146400-63149000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63149000-63149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63149200-63149800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63149800-63151000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63151200-63151400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:63151400-63155400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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