Variant report

Variant	esv3515956
Chromosome Location	chr7:121062213-121062624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121060143..121062548-chr7:121064145..121066050,2	MCF-7	breast:
2	chr7:121034569..121037516-chr7:121059482..121062540,3	MCF-7	breast:
3	chr7:121034886..121037643-chr7:121057416..121062764,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196937	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2952573	chr7:121062214-121062215	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201486069	chr7:121062218-121062219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552951243	chr7:121062307-121062308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62475041	chr7:121062343-121062344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62475042	chr7:121062346-121062347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150528542	chr7:121062371-121062372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62475043	chr7:121062389-121062390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62475044	chr7:121062395-121062396	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62475045	chr7:121062403-121062404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62475046	chr7:121062405-121062406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13311087	chr7:121062417-121062418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62475047	chr7:121062431-121062432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62475048	chr7:121062433-121062434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62475049	chr7:121062435-121062436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13310974	chr7:121062457-121062458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530234315	chr7:121062465-121062466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12706344	chr7:121062467-121062468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12690972	chr7:121062479-121062480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140402839	chr7:121062549-121062550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528373017	chr7:121062550-121062551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551303675	chr7:121062560-121062561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116694728	chr7:121062576-121062577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530648390	chr7:121062578-121062579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149783089	chr7:121062581-121062582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533905125	chr7:121062590-121062591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112655041	chr7:121062595-121062596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121056800-121065800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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