Variant report

Variant	esv2051136
Chromosome Location	chr10:54061856-54062249
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	POLR2A	chr10:54062039-54062251	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
PRKG1-AS1	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531331758	chr10:54061859-54061860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11001508	chr10:54061894-54061895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561596338	chr10:54061898-54061899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553884182	chr10:54061913-54061914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11001510	chr10:54061916-54061917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114980546	chr10:54061929-54061930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540129786	chr10:54061936-54061937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192363474	chr10:54061937-54061938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183749421	chr10:54061941-54061942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146962508	chr10:54061944-54061945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536272161	chr10:54061945-54061946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192851270	chr10:54061946-54061947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201755044	chr10:54061949-54061950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535447184	chr10:54061951-54061952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555839624	chr10:54061958-54061959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572401149	chr10:54061962-54061963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377056452	chr10:54061963-54061964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117124418	chr10:54061965-54061966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34333013	chr10:54061972-54061973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370723858	chr10:54061973-54061974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72146738	chr10:54061977-54061978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374623480	chr10:54061986-54061987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576759610	chr10:54061988-54061989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545668188	chr10:54061989-54061990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147977110	chr10:54061991-54061992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28372127	chr10:54061993-54061994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376738013	chr10:54061997-54061998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376809984	chr10:54062003-54062004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541423733	chr10:54062012-54062013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565174971	chr10:54062015-54062016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200013201	chr10:54062016-54062017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187479242	chr10:54062017-54062018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113001568	chr10:54062023-54062024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201069902	chr10:54062024-54062025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527379988	chr10:54062025-54062026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541210655	chr10:54062035-54062036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11001512	chr10:54062039-54062040	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28377272	chr10:54062043-54062044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs61849215	chr10:54062045-54062046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11001513	chr10:54062046-54062047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs182687615	chr10:54062049-54062050	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564654508	chr10:54062051-54062052	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs186987496	chr10:54062055-54062056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs397845632	chr10:54062057-54062058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368808428	chr10:54062064-54062065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11001514	chr10:54062065-54062066	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs28564752	chr10:54062069-54062070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62634842	chr10:54062071-54062072	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11001515	chr10:54062072-54062073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184504353	chr10:54062075-54062076	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Autism	18414403	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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54041400-54068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:54042800-54068200	Weak transcription	Aorta	Aorta
3	chr10:54043200-54067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:54045000-54068000	Weak transcription	HSMMtube	muscle
5	chr10:54057200-54068200	Weak transcription	HSMM	muscle

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