Variant report

Variant	esv3391892
Chromosome Location	chr7:3140783-3144200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3140254..3142201-chr7:3143047..3144954,2	MCF-7	breast:
2	chr7:3140254..3142201-chr7:3143047..3144954,2	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75981797	chr7:3140826-3140827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533422394	chr7:3140840-3140841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144101652	chr7:3140853-3140854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148665597	chr7:3140870-3140871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193057824	chr7:3140989-3140990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185861166	chr7:3141013-3141014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568969303	chr7:3141029-3141030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372659348	chr7:3141037-3141038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386709417	chr7:3141048-3141049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201333071	chr7:3141052-3141053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149342913	chr7:3141053-3141054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117964096	chr7:3141054-3141055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71809632	chr7:3141055-3141056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200589693	chr7:3141056-3141057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201561676	chr7:3141057-3141058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200317780	chr7:3141072-3141073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531476117	chr7:3141098-3141099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35910472	chr7:3141112-3141113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142187692	chr7:3141126-3141127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556255730	chr7:3141127-3141128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574425334	chr7:3141128-3141129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7809262	chr7:3141137-3141138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10951044	chr7:3141147-3141148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567417694	chr7:3141156-3141157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28470189	chr7:3141162-3141163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73673321	chr7:3141170-3141171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548378451	chr7:3141201-3141202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73050289	chr7:3141209-3141210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557700077	chr7:3141230-3141231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73282962	chr7:3141238-3141239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540880212	chr7:3141277-3141278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141312590	chr7:3141288-3141289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576867673	chr7:3141290-3141291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529637401	chr7:3141297-3141298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544184980	chr7:3141300-3141301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143665442	chr7:3141393-3141394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563027572	chr7:3141396-3141397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563111155	chr7:3141403-3141404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113303697	chr7:3141414-3141415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531412872	chr7:3141427-3141428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112212598	chr7:3141428-3141429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551524133	chr7:3141430-3141431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571231374	chr7:3141446-3141447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527301298	chr7:3141466-3141467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189938724	chr7:3141540-3141541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567447907	chr7:3141577-3141578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536580330	chr7:3141578-3141579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140423152	chr7:3141591-3141592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6943609	chr7:3141596-3141597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537911839	chr7:3141599-3141600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3136000-3140800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:3136200-3141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:3136200-3141400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:3136400-3141400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:3136400-3141600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:3136400-3141800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:3136400-3145600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:3136600-3141400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:3136800-3142000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:3136800-3142000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:3137000-3146000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:3137200-3141400	Weak transcription	Primary T cells from cord blood	blood
13	chr7:3140200-3141800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:3140400-3140800	ZNF genes & repeats	Fetal Thymus	thymus
15	chr7:3140800-3142200	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:3140800-3143800	Weak transcription	Fetal Thymus	thymus
17	chr7:3141000-3142000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:3141000-3142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:3141400-3142000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:3141400-3142200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:3141400-3143800	Enhancers	Primary T cells from cord blood	blood
22	chr7:3141400-3148000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:3141600-3143000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:3141800-3142200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:3141800-3142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:3142000-3142800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:3142000-3143000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:3142000-3143800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:3142000-3156200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:3142200-3144000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:3142200-3146000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:3142200-3146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:3142800-3143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:3143000-3144000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:3143000-3145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:3143400-3143600	Enhancers	Aorta	Aorta
37	chr7:3143400-3143600	Enhancers	Brain Substantia Nigra	brain
38	chr7:3143400-3143600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:3143400-3144800	Enhancers	Adipose Nuclei	Adipose
40	chr7:3143600-3144800	Weak transcription	Aorta	Aorta
41	chr7:3143600-3145600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:3143800-3144200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:3143800-3144200	Enhancers	Fetal Thymus	thymus
44	chr7:3143800-3144400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:3143800-3146200	Weak transcription	Primary T cells from cord blood	blood
46	chr7:3144000-3144200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:3144000-3144200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:3144000-3145400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:3144200-3144400	Enhancers	Spleen	Spleen
50	chr7:3144200-3144800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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