Variant report

Variant	esv3338212
Chromosome Location	chr10:61365246-61366344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34414463	chr10:61365281-61365282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16913829	chr10:61365306-61365307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541290736	chr10:61365310-61365311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183664755	chr10:61365318-61365319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11815865	chr10:61365321-61365322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575026357	chr10:61365349-61365350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542350254	chr10:61365357-61365358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572997544	chr10:61365358-61365359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186504871	chr10:61365376-61365377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373402676	chr10:61365421-61365422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530948433	chr10:61365837-61365838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370612883	chr10:61365885-61365886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541596670	chr10:61365913-61365914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565069887	chr10:61365942-61365943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140759830	chr10:61366013-61366014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200464107	chr10:61366014-61366015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3043404	chr10:61366038-61366039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532416367	chr10:61366049-61366050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547324588	chr10:61366081-61366082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113721391	chr10:61366096-61366097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565531473	chr10:61366114-61366115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529799961	chr10:61366126-61366127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372443117	chr10:61366175-61366176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192512280	chr10:61366176-61366177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184870547	chr10:61366192-61366193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372531110	chr10:61366244-61366245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9663158	chr10:61366245-61366246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79793041	chr10:61366247-61366248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571102763	chr10:61366304-61366305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2126775	chr10:61366305-61366306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553662205	chr10:61366316-61366317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9665551	chr10:61366337-61366338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
3	chr10:61366000-61366600	Enhancers	Fetal Brain Male	brain
4	chr10:61366000-61367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:61366000-61367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:61366000-61367400	Enhancers	Brain Germinal Matrix	brain
7	chr10:61366200-61366600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr10:61366200-61366600	Enhancers	HSMMtube	muscle
9	chr10:61366200-61366600	Enhancers	NH-A	brain
10	chr10:61366200-61366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:61366200-61366800	Enhancers	Fetal Heart	heart
12	chr10:61366200-61367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:61366200-61367000	Enhancers	Hela-S3	cervix
14	chr10:61366200-61369000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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