Variant report

Variant	rs4363511
Chromosome Location	chr10:49957450-49957451
allele	C/T
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	POLR2A	chr10:49957102-49957875	GM12878	blood:	n/a	n/a
2	MYC	chr10:49957426-49957515	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49948156..49950641-chr10:49956258..49957956,2	K562	blood:

Variant related genes	Relation type
ENSG00000228754	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10857630	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857634	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12413949	0.93[ASN][1000 genomes]
rs12416600	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12416601	0.92[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12572455	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12572801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17836430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17836431	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2199844	1.00[ASN][1000 genomes]
rs2199845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3860187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3936516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57486611	0.92[ASN][1000 genomes]
rs57837101	1.00[ASN][1000 genomes]
rs59178559	1.00[ASN][1000 genomes]
rs59859369	0.90[ASN][1000 genomes]
rs7084008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308017	0.93[ASN][1000 genomes]
rs73308028	0.99[ASN][1000 genomes]
rs73308035	1.00[ASN][1000 genomes]
rs73308045	1.00[ASN][1000 genomes]
rs7916463	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9629920	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49923400-49960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49952000-49960800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:49953400-49960200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49954200-49957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:49955000-49958000	Strong transcription	Primary hematopoietic stem cells	blood
6	chr10:49955400-49957600	Genic enhancers	GM12878-XiMat	blood
7	chr10:49956200-49957800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:49956200-49958600	Enhancers	Adipose Nuclei	Adipose
9	chr10:49957000-49959000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr10:49957000-49961200	Strong transcription	Primary B cells from cord blood	blood
11	chr10:49957000-49962000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr10:49957200-49959000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr10:49957400-49957600	Enhancers	Esophagus	oesophagus
14	chr10:49957400-49957600	ZNF genes & repeats	Pancreas	Pancrea
15	chr10:49957400-49958600	Enhancers	Lung	lung
16	chr10:49957400-49958600	Genic enhancers	Spleen	Spleen
17	chr10:49957400-49959000	Enhancers	Left Ventricle	heart
18	chr10:49957400-49960200	Strong transcription	Primary monocytes fromperipheralblood	blood

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