Variant report

Variant	nsv947534
Chromosome Location	chr1:86419901-86427809
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	chr1:86048046..86050238-chr1:86420456..86423004,2	K562	blood:

Extended variants
information (count: 306 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560933168	chr1:86419907-86419908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530163395	chr1:86420035-86420036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570256387	chr1:86420085-86420086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546777681	chr1:86420093-86420094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74097627	chr1:86420103-86420104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538468519	chr1:86420114-86420115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552305457	chr1:86420161-86420162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569194091	chr1:86420177-86420178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146264861	chr1:86420189-86420190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4912438	chr1:86420233-86420234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574461214	chr1:86420299-86420300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562646334	chr1:86420312-86420313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542649962	chr1:86420328-86420329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533934132	chr1:86420370-86420371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553575886	chr1:86420378-86420379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189808124	chr1:86420391-86420392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78444472	chr1:86420430-86420431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565103014	chr1:86420453-86420454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144015921	chr1:86420460-86420461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148650402	chr1:86420478-86420479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560996993	chr1:86420485-86420486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs524192	chr1:86420519-86420520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78538719	chr1:86420616-86420617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs597330	chr1:86420632-86420633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532608433	chr1:86420668-86420669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192506110	chr1:86420674-86420675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184285857	chr1:86420707-86420708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189532008	chr1:86420711-86420712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142109265	chr1:86420716-86420717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113617057	chr1:86420718-86420719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76414020	chr1:86420744-86420745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533562956	chr1:86420767-86420768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553682030	chr1:86420768-86420769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576881543	chr1:86420771-86420772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116041828	chr1:86420777-86420778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181834336	chr1:86420778-86420779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575430994	chr1:86420827-86420828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564330357	chr1:86420888-86420889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554854376	chr1:86420900-86420901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74942985	chr1:86420906-86420907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533010164	chr1:86420929-86420930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374782966	chr1:86420942-86420943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs499518	chr1:86420945-86420946	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186369946	chr1:86420966-86420967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546254970	chr1:86420990-86420991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562718071	chr1:86421040-86421041	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531523984	chr1:86421069-86421070	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548362786	chr1:86421130-86421131	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144564547	chr1:86421137-86421138	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140796776	chr1:86421146-86421147	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
small cell lung cancer	20016488	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86412000-86420400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86417000-86420400	Enhancers	Fetal Lung	lung
3	chr1:86417200-86422000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:86417200-86422200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:86417400-86420800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86417400-86421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:86419200-86431600	Weak transcription	GM12878-XiMat	blood
8	chr1:86419400-86420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:86420400-86421000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:86420400-86421400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:86420800-86421800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:86421000-86421400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:86421200-86423800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:86421400-86441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:86421800-86429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:86422000-86422800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr1:86422200-86424000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:86422800-86442400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:86423800-86427000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:86424000-86427200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:86424800-86426000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:86425200-86425800	Enhancers	Fetal Lung	lung
23	chr1:86425800-86441200	Weak transcription	Fetal Lung	lung
24	chr1:86426000-86432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:86427000-86427600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:86427200-86427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:86427400-86428000	Enhancers	Fetal Intestine Small	intestine
28	chr1:86427400-86428200	Enhancers	Fetal Intestine Large	intestine
29	chr1:86427600-86429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:86427600-86429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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