Variant report

Variant	esv3515336
Chromosome Location	chr10:25976621-25979044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr10:25976530-25976993	SH-SY5Y	brain:	n/a	chr10:25976789-25976799
2	POLR2A	chr10:25977180-25977214	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF274	chr10:25977689-25977974	K562	blood:	n/a	n/a

Variant related genes	Relation type
HIRAP1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34180613	chr10:25976632-25976633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189485826	chr10:25976697-25976698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530579432	chr10:25976774-25976775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35553073	chr10:25976777-25976778	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538542138	chr10:25976857-25976858	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181181486	chr10:25976891-25976892	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs115664431	chr10:25976897-25976898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184837409	chr10:25976924-25976925	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374960848	chr10:25976990-25976991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564295847	chr10:25977014-25977015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556997040	chr10:25977057-25977058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373568383	chr10:25977100-25977101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575330753	chr10:25977138-25977139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536675732	chr10:25977167-25977168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76105909	chr10:25977183-25977184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs11014677	chr10:25977191-25977192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546464092	chr10:25977218-25977219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71495478	chr10:25977223-25977224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188129533	chr10:25977236-25977237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559198384	chr10:25977247-25977248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368178769	chr10:25977251-25977252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11014678	chr10:25977257-25977258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9664692	chr10:25977270-25977271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180901391	chr10:25977332-25977333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372596873	chr10:25977360-25977361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529733217	chr10:25977372-25977373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35228747	chr10:25977377-25977378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186439056	chr10:25977396-25977397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369008285	chr10:25977450-25977451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561989827	chr10:25977458-25977459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12260110	chr10:25977474-25977475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532322129	chr10:25977475-25977476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34520250	chr10:25977499-25977500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552008814	chr10:25977543-25977544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373282321	chr10:25977554-25977555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191202350	chr10:25977579-25977580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181683563	chr10:25977645-25977646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186850766	chr10:25977715-25977716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs10629126	chr10:25977799-25977800	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs33920478	chr10:25977800-25977801	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs397715294	chr10:25977805-25977806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567779343	chr10:25977819-25977820	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536337229	chr10:25977832-25977833	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150993860	chr10:25977899-25977900	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566705994	chr10:25977925-25977926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370008197	chr10:25977973-25977974	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538299190	chr10:25977977-25977978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539348763	chr10:25977997-25977998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559259567	chr10:25978115-25978116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145028978	chr10:25978179-25978180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25962800-25993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:25972800-25978200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:25978200-25978600	Enhancers	Right Atrium	heart
4	chr10:25978200-25979000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:25978400-25985600	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:25978800-25979000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:25979000-25983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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