Variant report

Variant	rs13258507
Chromosome Location	chr8:126492597-126492598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126441090..126444547-chr8:126489407..126493139,4	MCF-7	breast:
2	chr8:126440471..126443261-chr8:126490513..126492965,2	K562	blood:
3	chr8:126490852..126493614-chr8:126495231..126496917,2	K562	blood:
4	chr8:126487201..126489383-chr8:126491210..126493652,2	K562	blood:
5	chr8:126487883..126490527-chr8:126491210..126493645,2	K562	blood:
6	chr8:126490839..126493464-chr8:126493478..126495853,2	MCF-7	breast:
7	chr8:126440590..126444026-chr8:126489711..126492773,5	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956249	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12164213	0.85[CEU][hapmap]
rs12544593	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545963	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12547199	0.85[CEU][hapmap]
rs12677676	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12678799	0.83[ASN][1000 genomes]
rs12679184	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679189	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12679547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681878	0.82[EUR][1000 genomes]
rs13265432	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271368	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17320616	0.88[CEU][hapmap]
rs17406109	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003370	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs34087092	0.90[ASN][1000 genomes]
rs34417638	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34604874	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35309034	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4567057	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4567059	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4592055	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870941	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55921265	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6470355	0.89[CEU][hapmap]
rs68089270	0.83[ASN][1000 genomes]
rs6983834	0.82[ASN][1000 genomes]
rs7015677	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71516786	0.82[ASN][1000 genomes]
rs7828194	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8180991	0.89[AMR][1000 genomes];0.95[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
2	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
3	chr8:126487600-126493200	Weak transcription	HMEC	breast
4	chr8:126487600-126496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:126488000-126497200	Weak transcription	Liver	Liver
6	chr8:126489600-126493400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:126491600-126493600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:126491800-126492600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:126492000-126493200	Enhancers	Primary B cells from cord blood	blood
10	chr8:126492000-126493600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:126492000-126493600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:126492000-126494000	Enhancers	NHEK	skin
13	chr8:126492000-126496600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:126492400-126492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:126492400-126493800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:126492400-126496800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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