Variant report

Variant	esv3411551
Chromosome Location	chr7:15585761-15600479
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	chr7:15365402..15367803-chr7:15593636..15595869,2	MCF-7	breast:
2	chr7:15365462..15366327-chr7:15594881..15595525,2	MCF-7	breast:

Extended variants
information (count: 470 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551226586	chr7:15585771-15585772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569434023	chr7:15585781-15585782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13242328	chr7:15585852-15585853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182063939	chr7:15585862-15585863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115466762	chr7:15585879-15585880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570381408	chr7:15585928-15585929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76348959	chr7:15585948-15585949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554330313	chr7:15585992-15585993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552614457	chr7:15585993-15585994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573039699	chr7:15586005-15586006	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144647997	chr7:15586026-15586027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371997443	chr7:15586033-15586034	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535249123	chr7:15586045-15586046	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557151818	chr7:15586068-15586069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575437884	chr7:15586077-15586078	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76244212	chr7:15586078-15586079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564224730	chr7:15586105-15586106	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185270546	chr7:15586143-15586144	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189976204	chr7:15586144-15586145	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562144503	chr7:15586159-15586160	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529446294	chr7:15586165-15586166	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550885552	chr7:15586195-15586196	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182592042	chr7:15586275-15586276	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10263276	chr7:15586279-15586280	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552012285	chr7:15586300-15586301	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567067148	chr7:15586313-15586314	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11508468	chr7:15586324-15586325	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs369001870	chr7:15586342-15586343	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186395078	chr7:15586388-15586389	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535211983	chr7:15586392-15586393	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148481490	chr7:15586399-15586400	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575348951	chr7:15586412-15586413	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539274057	chr7:15586418-15586419	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558005850	chr7:15586494-15586495	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573205847	chr7:15586497-15586498	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75204985	chr7:15586505-15586506	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141855701	chr7:15586510-15586511	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75338925	chr7:15586526-15586527	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543846848	chr7:15586534-15586535	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372591855	chr7:15586612-15586613	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150605582	chr7:15586656-15586657	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533533867	chr7:15586669-15586670	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79511682	chr7:15586706-15586707	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544698344	chr7:15586757-15586758	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142493134	chr7:15586769-15586770	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377316563	chr7:15586772-15586773	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75549002	chr7:15586805-15586806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114132252	chr7:15586814-15586815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546178787	chr7:15586821-15586822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374251067	chr7:15586822-15586823	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	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
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
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15583800-15586000	Weak transcription	Liver	Liver
2	chr7:15585800-15586400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:15586000-15586200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:15586000-15586200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:15586000-15586400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:15586000-15586400	Enhancers	Liver	Liver
7	chr7:15586000-15586600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:15586000-15586600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:15586000-15587200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:15586200-15586600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:15586200-15586600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:15586400-15586800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr7:15586400-15586800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:15586400-15586800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:15586400-15586800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:15586600-15586800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:15586600-15587200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:15586600-15587400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:15586600-15587400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr7:15586800-15587400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:15586800-15587400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:15586800-15587400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:15586800-15587400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:15593000-15593400	Weak transcription	Liver	Liver
25	chr7:15593000-15594600	Enhancers	Fetal Intestine Small	intestine
26	chr7:15593000-15596800	Enhancers	HUVEC	blood vessel
27	chr7:15593400-15593600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:15593400-15593600	Enhancers	Liver	Liver
29	chr7:15593400-15593600	Flanking Active TSS	A549	lung
30	chr7:15593400-15594000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:15593400-15594000	Enhancers	HSMM	muscle
32	chr7:15593400-15594200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:15593400-15594200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:15593400-15594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:15593400-15594200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:15593400-15594400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:15593400-15594600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:15593400-15594800	Enhancers	Brain Substantia Nigra	brain
39	chr7:15593400-15595400	Enhancers	Osteobl	bone
40	chr7:15593400-15596400	Enhancers	NHDF-Ad	bronchial
41	chr7:15593400-15600600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:15593600-15593800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:15593600-15593800	Flanking Active TSS	Liver	Liver
44	chr7:15593600-15593800	Enhancers	Brain Angular Gyrus	brain
45	chr7:15593600-15593800	Active TSS	A549	lung
46	chr7:15593600-15594000	Enhancers	Adipose Nuclei	Adipose
47	chr7:15593600-15594200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:15593600-15594200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:15593600-15594200	Enhancers	NH-A	brain
50	chr7:15593600-15594400	Enhancers	HUES64 Cell Line	embryonic stem cell

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