Variant report

Variant	esv2761312
Chromosome Location	chr7:25306924-25309227
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	STAT3	chr7:25308660-25308860	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr7:25307156-25307356	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25290174..25292631-chr7:25307009..25309416,2	K562	blood:

Variant related genes	Relation type
TSEN15P3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs968037	chr7:25306924-25306925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544224753	chr7:25306945-25306946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28624459	chr7:25306987-25306988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537181062	chr7:25307048-25307049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556775644	chr7:25307063-25307064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138477870	chr7:25307064-25307065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115433081	chr7:25307073-25307074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553306066	chr7:25307107-25307108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141928011	chr7:25307130-25307131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542060691	chr7:25307137-25307138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77997928	chr7:25307181-25307182	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540289527	chr7:25307228-25307229	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113177081	chr7:25307257-25307258	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573366258	chr7:25307284-25307285	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575342966	chr7:25307295-25307296	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543937026	chr7:25307304-25307305	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372151808	chr7:25307332-25307333	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186324769	chr7:25307340-25307341	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532542246	chr7:25307387-25307388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552126756	chr7:25307420-25307421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6946398	chr7:25307449-25307450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150277347	chr7:25307452-25307453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376107458	chr7:25307459-25307460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6946004	chr7:25307465-25307466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs568681570	chr7:25307466-25307467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537241745	chr7:25307471-25307472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372393515	chr7:25307524-25307525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138963798	chr7:25307536-25307537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191178599	chr7:25307584-25307585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551398686	chr7:25308745-25308746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs142856539	chr7:25308792-25308793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189187980	chr7:25308814-25308815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547157287	chr7:25308828-25308829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25306800-25307600	Enhancers	Primary T cells from cord blood	blood

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