Variant report

Variant	esv994215
Chromosome Location	chr7:6987478-6993974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 422 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113462104	chr7:6989805-6989806	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78456840	chr7:6989814-6989815	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111554818	chr7:6989817-6989818	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77460144	chr7:6989824-6989825	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567239790	chr7:6989827-6989828	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10266349	chr7:6989840-6989841	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75437554	chr7:6989855-6989856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190119013	chr7:6989857-6989858	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10276722	chr7:6989866-6989867	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76580071	chr7:6989878-6989879	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111634968	chr7:6989882-6989883	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200070668	chr7:6989894-6989895	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557583419	chr7:6989895-6989896	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569400765	chr7:6989906-6989907	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4461804	chr7:6989907-6989908	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4549689	chr7:6989909-6989910	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200995423	chr7:6989936-6989937	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79542255	chr7:6989944-6989945	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190379540	chr7:6989946-6989947	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563509066	chr7:6989965-6989966	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs540970717	chr7:6989975-6989976	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552808127	chr7:6989993-6989994	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577507187	chr7:6989998-6989999	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200794277	chr7:6990011-6990012	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531032339	chr7:6990028-6990029	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544851707	chr7:6990030-6990031	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201671611	chr7:6990039-6990040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs58461716	chr7:6990040-6990041	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144019546	chr7:6990041-6990042	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs397969391	chr7:6990044-6990045	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181893973	chr7:6990049-6990050	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111469925	chr7:6990070-6990071	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542674971	chr7:6990078-6990079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374404362	chr7:6990102-6990103	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs57363402	chr7:6990107-6990108	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149181298	chr7:6990109-6990110	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546607410	chr7:6990111-6990112	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367973132	chr7:6990112-6990113	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528341940	chr7:6990114-6990115	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112666591	chr7:6990117-6990118	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200946470	chr7:6990121-6990122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370598690	chr7:6990130-6990131	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551228665	chr7:6990143-6990144	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77482391	chr7:6990156-6990157	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142068004	chr7:6990189-6990190	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs4313073	chr7:6990198-6990199	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184924325	chr7:6990214-6990215	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74522668	chr7:6990217-6990218	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188220177	chr7:6990219-6990220	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534232084	chr7:6990227-6990228	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6989800-6990400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:6989800-6990800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:6989800-6990800	Enhancers	Ovary	ovary
4	chr7:6990000-6990200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6990000-6990400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:6990000-6990400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:6990000-6990600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:6990200-6990400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:6990200-6990400	Active TSS	NHEK	skin
10	chr7:6990200-6990800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:6990200-6991000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:6990400-6990600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:6990400-6990600	Flanking Active TSS	NHEK	skin
14	chr7:6990400-6990800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:6990600-6992800	Weak transcription	NHEK	skin
16	chr7:6992800-6993000	Enhancers	NHEK	skin
17	chr7:6993000-6993200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:6993000-6993600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:6993000-6993600	Flanking Active TSS	NHEK	skin
20	chr7:6993200-6993400	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:6993200-6993600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:6993200-6993600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:6993200-6994000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:6993200-6994000	Enhancers	HMEC	breast
25	chr7:6993600-6993800	Enhancers	NHEK	skin
26	chr7:6993600-6994200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:6993800-6994000	Enhancers	Stomach Mucosa	stomach

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