Variant report

Variant	nsv523891
Chromosome Location	chr1:85682261-85682592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85680889..85683525-chr1:85684219..85686902,3	K562	blood:
2	chr1:85664392..85672702-chr1:85677833..85684054,17	MCF-7	breast:
3	chr1:85668766..85670351-chr1:85680923..85682596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12065219	chr1:85682261-85682262	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576946167	chr1:85682265-85682266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12070155	chr1:85682298-85682299	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142821290	chr1:85682399-85682400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78355436	chr1:85682400-85682401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76921985	chr1:85682401-85682402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570843472	chr1:85682465-85682466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12070232	chr1:85682466-85682467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71075825	chr1:85682483-85682484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs36093324	chr1:85682484-85682485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542105160	chr1:85682507-85682508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575678497	chr1:85682509-85682510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370019295	chr1:85682512-85682513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538335844	chr1:85682513-85682514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201314605	chr1:85682516-85682517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373513595	chr1:85682524-85682525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113394925	chr1:85682525-85682526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72722627	chr1:85682528-85682529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562012959	chr1:85682556-85682557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370050671	chr1:85682573-85682574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12403276	chr1:85682592-85682593	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85673800-85690400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85681400-85684400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:85681400-85686600	Weak transcription	Stomach Mucosa	stomach
5	chr1:85681400-85690400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85681600-85684600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:85681800-85684600	Weak transcription	K562	blood
8	chr1:85681800-85685600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links