Variant report

Variant	rs12614879
Chromosome Location	chr2:171725123-171725124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171721677..171726010-chr2:171731476..171734906,5	K562	blood:
2	chr2:171723075..171726010-chr2:171732396..171733970,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10208705	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930443	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930444	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930445	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11895068	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12472230	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12620730	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1894915	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894916	0.81[ASN][1000 genomes]
rs1894921	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45501695	0.90[EUR][1000 genomes]
rs4667664	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667665	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668337	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668338	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668339	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433258	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433263	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6713150	0.82[ASN][1000 genomes]
rs6713482	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6734495	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7564818	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7575296	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7576508	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7578938	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7580088	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602737	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7603048	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606814	0.91[EUR][1000 genomes];0.83[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	nsv508179	chr2:171708404-171736003	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:171705200-171725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:171710400-171725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:171717000-171729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:171718200-171729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:171718400-171729200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:171718600-171729400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:171718600-171729600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links