Variant report

Variant	esv3347672
Chromosome Location	chr6:55205042-55224529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs937638	chr6:55205407-55205408	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186058120	chr6:55205408-55205409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140547295	chr6:55205439-55205440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12209649	chr6:55205440-55205441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535281306	chr6:55205444-55205445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138353461	chr6:55205450-55205451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530318050	chr6:55205470-55205471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190915337	chr6:55205474-55205475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560068735	chr6:55205482-55205483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183059883	chr6:55205493-55205494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7757288	chr6:55205502-55205503	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374406393	chr6:55205532-55205533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568977098	chr6:55205535-55205536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116176302	chr6:55205588-55205589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371648823	chr6:55205589-55205590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186997500	chr6:55205607-55205608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568413438	chr6:55205608-55205609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534035838	chr6:55205621-55205622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144343901	chr6:55205632-55205633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570058515	chr6:55205666-55205667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190241115	chr6:55205667-55205668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4628087	chr6:55205675-55205676	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556253627	chr6:55205678-55205679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7757498	chr6:55205679-55205680	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544442891	chr6:55205683-55205684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561143145	chr6:55205686-55205687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574795164	chr6:55205690-55205691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573643191	chr6:55205715-55205716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147385249	chr6:55205728-55205729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560127527	chr6:55205729-55205730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532504190	chr6:55205742-55205743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12209722	chr6:55205762-55205763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142530796	chr6:55205763-55205764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370133405	chr6:55205769-55205770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563041638	chr6:55205779-55205780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183185050	chr6:55205780-55205781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114867706	chr6:55205805-55205806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568222978	chr6:55205806-55205807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4573074	chr6:55205811-55205812	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13191759	chr6:55205847-55205848	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570636009	chr6:55205848-55205849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539455513	chr6:55205862-55205863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112294599	chr6:55205866-55205867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139622822	chr6:55205873-55205874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114260248	chr6:55205882-55205883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149734509	chr6:55205892-55205893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146730296	chr6:55205907-55205908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574654434	chr6:55205977-55205978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368494557	chr6:55205981-55205982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs116435350	chr6:55205982-55205983	ZNF genes & repeats	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55205400-55206200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:55217800-55218200	Enhancers	Fetal Heart	heart

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