Variant report

Variant	esv3475812
Chromosome Location	chr7:27948556-27949028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201	chr7:27948574-27948575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71555720	chr7:27948621-27948622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28616265	chr7:27948625-27948626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140676484	chr7:27948629-27948630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112234775	chr7:27948633-27948634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76301238	chr7:27948636-27948637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10690251	chr7:27948646-27948647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78273051	chr7:27948653-27948654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190897497	chr7:27948664-27948665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371826712	chr7:27948703-27948704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563692776	chr7:27948734-27948735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573034688	chr7:27948749-27948750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538899839	chr7:27948782-27948783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530890209	chr7:27948833-27948834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150827004	chr7:27948846-27948847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561383615	chr7:27948918-27948919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202	chr7:27948956-27948957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs397889913	chr7:27949023-27949024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397889213	chr7:27949025-27949026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Cancer	17440070	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:27937600-27953800	Weak transcription	Right Ventricle	heart
4	chr7:27937600-27956200	Weak transcription	Gastric	stomach
5	chr7:27939200-27953000	Weak transcription	Left Ventricle	heart
6	chr7:27939800-27950200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:27939800-27950400	Weak transcription	Pancreas	Pancrea
8	chr7:27941200-27954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
10	chr7:27941400-27949800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:27942200-27949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:27942200-27950000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:27942200-27953800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:27942200-27956000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:27942400-27952400	Weak transcription	Primary B cells from cord blood	blood
20	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:27945200-27948800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:27945600-27948800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:27945600-27948800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:27945600-27949000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:27945600-27949600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:27945600-27949800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:27946000-27949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:27946000-27949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:27946000-27952400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:27946600-27949600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:27946600-27949800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:27946600-27953400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:27946800-27949800	Weak transcription	NHDF-Ad	bronchial
34	chr7:27946800-27953400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:27947200-27949400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:27947600-27949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:27947600-27950400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:27948000-27949000	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:27948400-27949600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:27948400-27949600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:27948400-27949600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:27948800-27949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:27948800-27949200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:27948800-27949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:27949000-27949400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:27949000-27957400	Weak transcription	Primary B cells from peripheral blood	blood

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