Variant report

Variant	nsv823254
Chromosome Location	chr1:77831518-77832500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr1:77832176-77832320	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77817387..77819700-chr1:77829412..77831526,2	K562	blood:

Variant related genes	Relation type
AK5	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557071490	chr1:77831520-77831521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141028451	chr1:77831534-77831535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17100456	chr1:77831564-77831565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528813050	chr1:77831579-77831580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547259981	chr1:77831602-77831603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191112587	chr1:77831603-77831604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538241084	chr1:77831617-77831618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550262240	chr1:77831640-77831641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539551285	chr1:77831648-77831649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1470898	chr1:77831652-77831653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145616076	chr1:77831698-77831699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138486383	chr1:77831738-77831739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374704337	chr1:77831747-77831748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180728435	chr1:77831797-77831798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17100458	chr1:77831799-77831800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558811525	chr1:77831800-77831801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141396354	chr1:77831812-77831813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377611849	chr1:77831815-77831816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370746887	chr1:77831858-77831859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116434837	chr1:77831889-77831890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563787191	chr1:77831961-77831962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375562992	chr1:77831976-77831977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542425888	chr1:77832056-77832057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556122767	chr1:77832114-77832115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143355771	chr1:77832122-77832123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561354087	chr1:77832156-77832157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576005552	chr1:77832176-77832177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528672953	chr1:77832243-77832244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs2815307	chr1:77832250-77832251	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565193288	chr1:77832254-77832255	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563141612	chr1:77832311-77832312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186114037	chr1:77832386-77832387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550127457	chr1:77832494-77832495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77795000-77836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:77813800-77834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77814400-77835600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:77817400-77834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:77819800-77835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77820400-77836400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:77821000-77835600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:77824400-77836400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:77826200-77834200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77826200-77836400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:77826400-77834200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:77826800-77834200	Weak transcription	HSMM	muscle
14	chr1:77829200-77834000	Weak transcription	NHDF-Ad	bronchial
15	chr1:77830200-77835200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:77831000-77831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:77831200-77831600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:77831600-77835600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:77831600-77835800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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