Variant report

Variant	esv3425190
Chromosome Location	chr10:94202448-94205377
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	chr10:94205003-94205037	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000207895	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540038920	chr10:94202470-94202471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559962219	chr10:94202471-94202472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528999391	chr10:94202509-94202510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114937700	chr10:94202519-94202520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2771255	chr10:94202575-94202576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544564210	chr10:94202589-94202590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532033988	chr10:94202632-94202633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147931503	chr10:94202645-94202646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186752555	chr10:94202690-94202691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192002824	chr10:94202691-94202692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527860659	chr10:94202692-94202693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375861653	chr10:94202732-94202733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548028567	chr10:94202733-94202734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567642138	chr10:94202744-94202745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183190191	chr10:94202751-94202752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140044890	chr10:94202778-94202779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187828632	chr10:94202794-94202795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538656112	chr10:94202825-94202826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184929140	chr10:94202834-94202835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557581634	chr10:94202866-94202867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117526242	chr10:94202896-94202897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2798253	chr10:94202905-94202906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182415996	chr10:94202989-94202990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189604788	chr10:94203000-94203001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144933397	chr10:94203063-94203064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532351022	chr10:94203064-94203065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182215902	chr10:94203112-94203113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542754294	chr10:94203155-94203156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562453182	chr10:94203212-94203213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576062351	chr10:94203218-94203219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545044044	chr10:94203219-94203220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528093943	chr10:94203227-94203228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565544255	chr10:94203230-94203231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528028617	chr10:94203238-94203239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547657471	chr10:94203242-94203243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561577621	chr10:94203244-94203245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530129852	chr10:94203245-94203246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550205610	chr10:94203247-94203248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570054447	chr10:94203254-94203255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538617817	chr10:94203260-94203261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140761040	chr10:94203290-94203291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58951177	chr10:94203299-94203300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188104430	chr10:94203320-94203321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552389317	chr10:94203424-94203425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568942807	chr10:94203427-94203428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571192161	chr10:94203443-94203444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533863153	chr10:94203458-94203459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192683764	chr10:94203550-94203551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573819302	chr10:94203559-94203560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373413474	chr10:94203587-94203588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94191000-94211400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:94196000-94209600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:94200000-94214200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:94200600-94210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:94201600-94214400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:94204600-94205000	Weak transcription	Placenta	Placenta
7	chr10:94204600-94211400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:94204600-94211800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:94205000-94205200	Enhancers	Placenta	Placenta
10	chr10:94205200-94211800	Weak transcription	Placenta	Placenta
11	chr10:94205200-94212800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:94205200-94214400	Weak transcription	Right Ventricle	heart

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