Variant report

Variant	esv3441977
Chromosome Location	chr7:3711376-3713474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5882001	chr7:3711376-3711377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397765989	chr7:3711381-3711382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs398110979	chr7:3711382-3711383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541668359	chr7:3711387-3711388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs750820	chr7:3711406-3711407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530314898	chr7:3711410-3711411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145665326	chr7:3711420-3711421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563529450	chr7:3711422-3711423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113139299	chr7:3711540-3711541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371145280	chr7:3711564-3711565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141052749	chr7:3711588-3711589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528241714	chr7:3711604-3711605	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11976554	chr7:3711623-3711624	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150238225	chr7:3711635-3711636	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs181337209	chr7:3711637-3711638	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs145802949	chr7:3711643-3711644	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs570450743	chr7:3711683-3711684	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539447581	chr7:3711759-3711760	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs373486963	chr7:3711767-3711768	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs553077390	chr7:3711819-3711820	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs10262079	chr7:3711837-3711838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10262080	chr7:3711840-3711841	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374979716	chr7:3711851-3711852	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs77406698	chr7:3711921-3711922	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs375247352	chr7:3711932-3711933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs145340247	chr7:3711937-3711938	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs564020050	chr7:3711960-3711961	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs372778336	chr7:3711975-3711976	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs367941871	chr7:3711993-3711994	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs10262231	chr7:3712005-3712006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538854036	chr7:3712014-3712015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185980558	chr7:3712053-3712054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10233791	chr7:3712110-3712111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183257299	chr7:3712118-3712119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561727742	chr7:3712147-3712148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10249190	chr7:3712172-3712173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370781557	chr7:3712176-3712177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1019914	chr7:3712192-3712193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563633011	chr7:3712214-3712215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11976733	chr7:3712228-3712229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11977446	chr7:3712229-3712230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11977448	chr7:3712238-3712239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553354336	chr7:3712274-3712275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546605586	chr7:3712326-3712327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11978118	chr7:3712374-3712375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377191331	chr7:3712388-3712389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369148526	chr7:3712389-3712390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60804020	chr7:3712390-3712391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186564810	chr7:3712391-3712392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190627675	chr7:3712400-3712401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
2	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3706200-3711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3708400-3711600	Weak transcription	Pancreas	Pancrea
5	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
6	chr7:3708800-3713000	Enhancers	Primary T cells from cord blood	blood
7	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:3710200-3712200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:3710400-3712000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:3710600-3711600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:3710600-3711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:3710600-3712000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:3711000-3712000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:3711400-3712200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:3711600-3711800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:3711600-3712000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr7:3711600-3712000	Enhancers	Fetal Brain Male	brain
18	chr7:3711600-3712000	Enhancers	Pancreas	Pancrea
19	chr7:3711600-3712000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:3711600-3712000	Enhancers	Thymus	Thymus
21	chr7:3711800-3712200	Enhancers	Fetal Lung	lung
22	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:3712000-3713000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:3712000-3713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:3712600-3713000	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:3712800-3713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:3712800-3713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:3712800-3713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:3713000-3713200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:3713000-3713400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:3713000-3721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:3713200-3713400	Enhancers	Sigmoid Colon	Sigmoid Colon

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