Variant report

Variant	nsv520883
Chromosome Location	chr22:32857824-32858428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32188129-32210582..22:32846948-32860159	K562	blood:
2	22:32846948-32860159..22:33262063-33266567	Hela-S3	cervix:
3	22:32846948-32860159..22:33452523-33459358	Hela-S3	cervix:
4	22:32292186-32294405..22:32846948-32860159	Hela-S3	cervix:
5	22:32170492-32188129..22:32846948-32860159	K562	blood:
6	22:32342898-32343477..22:32846948-32860159	GM12878	blood:
7	22:32740683-32750950..22:32846948-32860159	K562	blood:
8	22:32264718-32278135..22:32846948-32860159	GM12878	blood:
9	22:32102727-32109893..22:32846948-32860159	GM12878	blood:
10	22:32012966-32043914..22:32846948-32860159	K562	blood:
11	22:32846948-32860159..22:33339333-33353583	K562	blood:
12	22:32846948-32860159..22:33190123-33206921	K562	blood:
13	chr22:32857701..32860876-chr22:32869435..32872164,3	K562	blood:
14	22:32477762-32487457..22:32846948-32860159	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000100234	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000183530	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000100170	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000100225	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 65 )

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	rs6518780	chr22:32857824-32857825	Inactive region	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371512718	chr22:32857852-32857853	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs560363474	chr22:32857882-32857883	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs186933323	chr22:32857883-32857884	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs563214382	chr22:32857887-32857888	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs149219690	chr22:32857913-32857914	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs551758541	chr22:32857932-32857933	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs571637812	chr22:32857935-32857936	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs112259572	chr22:32857964-32857965	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs546793107	chr22:32857976-32857977	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs183076417	chr22:32857978-32857979	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs77819393	chr22:32857986-32857987	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs113892933	chr22:32858026-32858027	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs569135978	chr22:32858052-32858053	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs187671309	chr22:32858058-32858059	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs189591169	chr22:32858093-32858094	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs2205842	chr22:32858106-32858107	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs146965412	chr22:32858110-32858111	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs542641309	chr22:32858135-32858136	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs367638231	chr22:32858155-32858156	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs35716277	chr22:32858156-32858157	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs573863345	chr22:32858171-32858172	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs371968829	chr22:32858178-32858179	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs373026911	chr22:32858185-32858186	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs11704047	chr22:32858194-32858195	Inactive region	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559726474	chr22:32858200-32858201	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs376486320	chr22:32858205-32858206	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs369205403	chr22:32858211-32858212	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs562995980	chr22:32858231-32858232	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs532068659	chr22:32858267-32858268	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs182158268	chr22:32858285-32858286	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs565305858	chr22:32858339-32858340	Inactive region	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs5994572	chr22:32858428-32858429	Inactive region	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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