Variant report

Variant	rs6989293
Chromosome Location	chr8:130449321-130449322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130448396..130450929-chr8:130509710..130511491,2	K562	blood:
2	chr8:130448325..130451235-chr8:130463069..130467328,3	K562	blood:

Variant related genes	Relation type
ENSG00000266387	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10098856	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10100977	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10102471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103083	0.82[JPT][hapmap]
rs1030626	0.90[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs10956479	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118872	0.86[JPT][hapmap]
rs1124682	0.82[JPT][hapmap]
rs11781179	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782132	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11996992	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12545968	0.86[JPT][hapmap]
rs12681076	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1368136	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1465680	0.82[JPT][hapmap]
rs1594597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1835848	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2217589	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2395899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630509	0.88[EUR][1000 genomes]
rs4733707	0.82[JPT][hapmap]
rs6989619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995168	0.83[ASN][1000 genomes]
rs6998642	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs744652	0.86[JPT][hapmap]
rs7837648	0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs891833	0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9969496	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr8:130446400-130449400	ZNF genes & repeats	Dnd41	blood
2	chr8:130447400-130449400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:130448600-130458800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:130448800-130449400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:130448800-130451000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:130449000-130449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130449200-130449400	ZNF genes & repeats	K562	blood
8	chr8:130449200-130449600	Enhancers	NHEK	skin

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