Variant report

Variant	rs57719423
Chromosome Location	chr10:49589832-49589833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49587453..49590173-chr10:49593697..49595801,2	K562	blood:
2	chr10:49589540..49591381-chr10:49641567..49643143,2	K562	blood:
3	chr10:49584988..49587799-chr10:49588143..49591502,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12265885	1.00[ASN][1000 genomes]
rs55740545	1.00[ASN][1000 genomes]
rs57216848	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57796922	1.00[AFR][1000 genomes]
rs58136961	0.81[AFR][1000 genomes]
rs58206495	1.00[AFR][1000 genomes]
rs60303520	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293126	1.00[ASN][1000 genomes]
rs73293156	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293179	0.89[AFR][1000 genomes]
rs73293183	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293187	1.00[AFR][1000 genomes]
rs73293190	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293192	1.00[AFR][1000 genomes]
rs73293201	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293515	1.00[AFR][1000 genomes]
rs73293518	1.00[AFR][1000 genomes]
rs73293521	1.00[AFR][1000 genomes]
rs73293530	1.00[AFR][1000 genomes]
rs73293531	1.00[AFR][1000 genomes]
rs73293532	0.89[AFR][1000 genomes]
rs73293538	1.00[AFR][1000 genomes]
rs73293542	1.00[AFR][1000 genomes]
rs73293545	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293552	0.89[AFR][1000 genomes]
rs73294819	1.00[AFR][1000 genomes]
rs73294822	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73294824	0.89[AFR][1000 genomes]
rs73294831	0.89[AFR][1000 genomes]
rs73296750	1.00[AFR][1000 genomes]
rs73296755	1.00[AFR][1000 genomes]
rs73296791	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73296794	0.89[AFR][1000 genomes]
rs73296801	1.00[AFR][1000 genomes]
rs73298605	0.89[AFR][1000 genomes]
rs73307982	0.89[AFR][1000 genomes]
rs73307989	1.00[AFR][1000 genomes]
rs73308000	1.00[AFR][1000 genomes]
rs73308002	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309914	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309915	1.00[AFR][1000 genomes]
rs73309917	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309925	0.89[AFR][1000 genomes]
rs73309927	1.00[AFR][1000 genomes]
rs73309935	1.00[AFR][1000 genomes]
rs73309937	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49573600-49591200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49577200-49590000	Weak transcription	Ovary	ovary
3	chr10:49585200-49591200	Weak transcription	Fetal Heart	heart
4	chr10:49586200-49591200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:49586400-49592400	Weak transcription	Fetal Kidney	kidney
6	chr10:49586400-49592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:49587600-49599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:49588000-49590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:49589200-49591200	Weak transcription	K562	blood
10	chr10:49589600-49591200	Weak transcription	HSMM	muscle
11	chr10:49589600-49592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:49589800-49590200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr10:49589800-49590200	ZNF genes & repeats	Aorta	Aorta
14	chr10:49589800-49590200	ZNF genes & repeats	Fetal Lung	lung
15	chr10:49589800-49590200	ZNF genes & repeats	Left Ventricle	heart
16	chr10:49589800-49590200	ZNF genes & repeats	Pancreas	Pancrea
17	chr10:49589800-49590200	Enhancers	A549	lung
18	chr10:49589800-49590400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:49589800-49590400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr10:49589800-49590600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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