Variant report

Variant	rs2719190
Chromosome Location	chr8:130363772-130363773
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130361706..130364062-chr8:130364764..130367218,2	K562	blood:

Variant related genes	Relation type
ENSG00000229140	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10505536	0.85[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs12056871	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258902	0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs13280005	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1835849	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1835850	0.84[ASN][1000 genomes]
rs2099290	0.84[ASN][1000 genomes]
rs2099291	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099292	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs2436206	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568441	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568442	0.81[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2568444	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568446	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568448	0.81[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568449	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568451	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568452	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2579854	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2579855	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2579859	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2719192	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2719193	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733546	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7003796	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004036	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891837	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[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	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130355000-130368400	Strong transcription	K562	blood
2	chr8:130356200-130365000	Weak transcription	Ovary	ovary
3	chr8:130357800-130364600	Weak transcription	Thymus	Thymus
4	chr8:130361600-130368400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:130361600-130370800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130361800-130371000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:130362400-130365000	Weak transcription	Fetal Thymus	thymus
8	chr8:130363200-130364200	Weak transcription	Dnd41	blood

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