Variant report

Variant	nsv870546
Chromosome Location	chr1:90783440-90816579
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	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:
2	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:

Extended variants
information (count: 806 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7550206	chr1:90783440-90783441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75152451	chr1:90783446-90783447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534047065	chr1:90783458-90783459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549233929	chr1:90783499-90783500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534486450	chr1:90783586-90783587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567446932	chr1:90783594-90783595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537986281	chr1:90783638-90783639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554538696	chr1:90783696-90783697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370041786	chr1:90783700-90783701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577625234	chr1:90783792-90783793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7528896	chr1:90783796-90783797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536466490	chr1:90783828-90783829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553698585	chr1:90783829-90783830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534979256	chr1:90783849-90783850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556187615	chr1:90783872-90783873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542894937	chr1:90783880-90783881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554791314	chr1:90783908-90783909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36054636	chr1:90783911-90783912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397862336	chr1:90783917-90783918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576221581	chr1:90783989-90783990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200948104	chr1:90784008-90784009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77904184	chr1:90784023-90784024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76834348	chr1:90784032-90784033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565239039	chr1:90784089-90784090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34487333	chr1:90784105-90784106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541083000	chr1:90784153-90784154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559683907	chr1:90784214-90784215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527612495	chr1:90784255-90784256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6428585	chr1:90784283-90784284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36113737	chr1:90784293-90784294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397815757	chr1:90784306-90784307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567507844	chr1:90784326-90784327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187958568	chr1:90784337-90784338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549899702	chr1:90784359-90784360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34245845	chr1:90784417-90784418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538690073	chr1:90784418-90784419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553518803	chr1:90784423-90784424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557321418	chr1:90784434-90784435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540905928	chr1:90784493-90784494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111232575	chr1:90784507-90784508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111964174	chr1:90784523-90784524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576284624	chr1:90784545-90784546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543677978	chr1:90784576-90784577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200911149	chr1:90784579-90784580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202030078	chr1:90784584-90784585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150802388	chr1:90784608-90784609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193194493	chr1:90784631-90784632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4565695	chr1:90784635-90784636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs542203535	chr1:90784639-90784640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531709511	chr1:90784641-90784642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90782800-90783800	Enhancers	NHEK	skin
2	chr1:90782800-90784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:90783000-90783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:90783200-90783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:90783200-90783800	Enhancers	HMEC	breast
6	chr1:90783600-90785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:90783800-90785000	Weak transcription	NHEK	skin
8	chr1:90783800-90785600	Weak transcription	HMEC	breast
9	chr1:90784000-90785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:90785000-90786200	Enhancers	NHEK	skin
11	chr1:90785600-90785800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:90785600-90786000	Enhancers	HMEC	breast
13	chr1:90785800-90786400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:90785800-90787000	Enhancers	Fetal Muscle Leg	muscle
15	chr1:90790000-90790200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr1:90790000-90790400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr1:90790000-90791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:90790000-90791600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:90790200-90791800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:90790200-90791800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:90790400-90790800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:90790400-90791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:90790800-90792000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:90791000-90791400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:90791400-90791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:90791800-90792400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:90791800-90792600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:90792000-90792400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:90792000-90792400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:90792000-90792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:90792000-90792600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:90793000-90794400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:90793200-90793400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:90793400-90794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:90794400-90794600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:90794400-90795000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:90794600-90795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:90794600-90795200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:90798400-90799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:90798400-90799600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:90799400-90800000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:90799800-90800200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:90801000-90802000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:90801200-90801600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:90803800-90805000	Enhancers	Dnd41	blood
46	chr1:90804000-90805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:90804400-90805000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:90804400-90805600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:90804400-90807000	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:90805000-90806000	Flanking Active TSS	Dnd41	blood

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