Variant report

Variant	rs12639691
Chromosome Location	chr4:91270504-91270505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:91268568..91271022-chr4:91272053..91274584,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10015182	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10026538	0.81[LWK][hapmap]
rs1023905	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10516868	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10856877	0.94[ASW][hapmap];0.81[CEU][hapmap]
rs11097246	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11097247	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11097248	0.81[LWK][hapmap]
rs11722282	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11723677	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11943083	0.98[EUR][1000 genomes]
rs12108481	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12108488	0.93[ASW][hapmap];0.89[CEU][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12642565	0.81[LWK][hapmap]
rs12644644	0.96[EUR][1000 genomes]
rs12647511	0.96[EUR][1000 genomes]
rs13112637	0.98[EUR][1000 genomes]
rs13117351	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1381353	0.80[LWK][hapmap]
rs1461736	0.81[AFR][1000 genomes]
rs1461739	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1551794	0.95[CEU][hapmap];0.81[LWK][hapmap];0.89[EUR][1000 genomes]
rs17016698	0.84[CEU][hapmap]
rs17016807	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17016931	1.00[YRI][hapmap]
rs17016933	0.81[LWK][hapmap]
rs1903577	0.81[LWK][hapmap]
rs1973146	0.81[LWK][hapmap]
rs2054350	0.82[CEU][hapmap]
rs2085915	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap]
rs2085916	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2126283	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2169398	0.81[LWK][hapmap]
rs34389744	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs34407211	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775484	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6824866	0.81[LWK][hapmap]
rs6835475	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6842950	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[ASN][1000 genomes]
rs733660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs752367	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7654964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7668943	0.94[EUR][1000 genomes]
rs7688401	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9993515	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879542	chr4:91185206-91287204	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2763804	chr4:91261413-91291516	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1006975	chr4:91268174-91298909	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91258600-91274800	Weak transcription	Left Ventricle	heart
2	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:91270400-91271600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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