Variant report

Variant	esv3366640
Chromosome Location	chr10:22061996-22064094
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	chr10:22052432..22054490-chr10:22062596..22064322,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4748768	chr10:22061997-22061998	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115305585	chr10:22062035-22062036	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184498213	chr10:22062100-22062101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188955524	chr10:22062102-22062103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146558446	chr10:22062143-22062144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116823410	chr10:22062194-22062195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544172457	chr10:22062252-22062253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546730015	chr10:22062518-22062519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560245998	chr10:22062551-22062552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181945901	chr10:22062574-22062575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs117612183	chr10:22062661-22062662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75902097	chr10:22062666-22062667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532712845	chr10:22062721-22062722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs3951780	chr10:22062729-22062730	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs201344852	chr10:22062733-22062734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569546629	chr10:22062792-22062793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528720612	chr10:22062797-22062798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537063327	chr10:22062806-22062807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548456375	chr10:22062831-22062832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12257748	chr10:22062836-22062837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567385293	chr10:22062837-22062838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563173283	chr10:22062840-22062841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113446257	chr10:22062841-22062842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568767094	chr10:22062931-22062932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545231544	chr10:22062987-22062988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572707323	chr10:22063065-22063066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189069253	chr10:22063169-22063170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560754928	chr10:22063294-22063295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375062805	chr10:22063319-22063320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537320971	chr10:22063330-22063331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565571703	chr10:22063335-22063336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181019637	chr10:22063377-22063378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72802956	chr10:22063380-22063381	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549044500	chr10:22063415-22063416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530255480	chr10:22063416-22063417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540381178	chr10:22063450-22063451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115432460	chr10:22063456-22063457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532775397	chr10:22063533-22063534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552772657	chr10:22063549-22063550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374155825	chr10:22063558-22063559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142376908	chr10:22063580-22063581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532023424	chr10:22063589-22063590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550599546	chr10:22063593-22063594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567140315	chr10:22063635-22063636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536200646	chr10:22063636-22063637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111719036	chr10:22063666-22063667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566202136	chr10:22063697-22063698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548336755	chr10:22063701-22063702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538461693	chr10:22063712-22063713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558313828	chr10:22063795-22063796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22034400-22074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:22036200-22066600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:22047200-22074000	Weak transcription	K562	blood
4	chr10:22048000-22109000	Weak transcription	Ovary	ovary
5	chr10:22048200-22069200	Weak transcription	Right Ventricle	heart
6	chr10:22048200-22074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:22048400-22070400	Weak transcription	Pancreas	Pancrea
8	chr10:22048400-22087400	Weak transcription	Aorta	Aorta
9	chr10:22048400-22094800	Weak transcription	Small Intestine	intestine
10	chr10:22048400-22099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:22048600-22067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:22048600-22067800	Weak transcription	Lung	lung
13	chr10:22048600-22074000	Weak transcription	Left Ventricle	heart
14	chr10:22048600-22074000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:22048600-22076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:22048600-22076600	Weak transcription	Gastric	stomach
17	chr10:22048800-22079600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:22048800-22114000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:22049000-22086400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:22049400-22074000	Weak transcription	Liver	Liver
21	chr10:22053200-22064800	Weak transcription	Primary B cells from cord blood	blood
22	chr10:22054200-22076600	Weak transcription	Fetal Lung	lung
23	chr10:22054600-22066800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:22055200-22067800	Weak transcription	Fetal Stomach	stomach
25	chr10:22055400-22095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:22061000-22065600	Weak transcription	Primary T cells from cord blood	blood
27	chr10:22061000-22065600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr10:22061000-22066200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:22061000-22066400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr10:22061000-22066600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr10:22061000-22077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:22061200-22067000	Weak transcription	Stomach Mucosa	stomach
33	chr10:22061400-22063400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:22061600-22062600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:22061600-22067600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:22061800-22062000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:22061800-22062000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr10:22061800-22062000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:22061800-22062200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr10:22061800-22062200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:22061800-22064200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:22062000-22067200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:22062200-22067800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:22062200-22088800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:22062600-22067600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:22063400-22067400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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