Variant report

Variant	rs6998379
Chromosome Location	chr8:125813137-125813138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125812435..125816842-chr8:125817567..125822282,5	MCF-7	breast:
2	chr8:125807494..125809531-chr8:125811764..125814471,2	K562	blood:
3	chr8:125807877..125814693-chr8:125825913..125830602,6	K562	blood:
4	chr8:125791704..125794357-chr8:125812498..125814559,2	K562	blood:
5	chr8:125811755..125814591-chr8:125821770..125824096,2	MCF-7	breast:
6	chr8:125812133..125814185-chr8:125819036..125820663,2	K562	blood:
7	chr8:125810899..125814693-chr8:125825780..125828735,5	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10096762	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096773	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10111362	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10441517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956210	0.97[ASN][1000 genomes]
rs10956211	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956212	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956213	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34102348	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34642461	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35401131	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35468637	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35806510	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36117845	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871545	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871548	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60194127	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530567	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530568	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470281	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470283	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470285	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66919556	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7000790	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465312	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7465366	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821674	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822172	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822246	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822339	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823921	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840165	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840339	0.99[ASN][1000 genomes]
rs7840519	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840542	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297697	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297698	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643204	0.98[EUR][1000 genomes];0.99[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125803400-125815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125809400-125813600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:125809600-125814800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125811000-125815000	Weak transcription	HSMMtube	muscle
5	chr8:125811400-125820600	Weak transcription	Lung	lung
6	chr8:125812000-125816200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125812400-125813600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:125813000-125813200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:125813000-125813600	Enhancers	Fetal Heart	heart

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