Variant report

Variant	rs2951690
Chromosome Location	chr12:120813126-120813127
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120807905..120811121-chr12:120812989..120814998,3	K562	blood:
2	chr12:120796844..120799038-chr12:120810328..120813184,2	K562	blood:
3	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
4	chr12:120812502..120815331-chr12:120816512..120818063,2	K562	blood:
5	chr12:120813114..120815441-chr12:120875563..120877352,2	MCF-7	breast:
6	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:

Variant related genes	Relation type
ENSG00000111780	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000111775	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1076206	0.85[EUR][1000 genomes]
rs1179430	0.85[EUR][1000 genomes]
rs1179433	0.87[EUR][1000 genomes]
rs1179436	0.89[EUR][1000 genomes]
rs1179437	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179438	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1179440	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1179441	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179442	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179443	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179445	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179446	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179449	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1179451	0.86[ASN][1000 genomes]
rs1184532	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12298898	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1306624	0.85[EUR][1000 genomes]
rs206948	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206949	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs206952	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2261612	0.81[EUR][1000 genomes]
rs2283367	0.86[ASN][1000 genomes]
rs2285679	0.82[ASN][1000 genomes]
rs2522131	0.81[EUR][1000 genomes]
rs2522133	0.82[EUR][1000 genomes]
rs2522134	0.83[EUR][1000 genomes]
rs3782901	0.86[ASN][1000 genomes]
rs4767890	0.88[ASN][1000 genomes]
rs735382	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757122	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs916842	0.90[EUR][1000 genomes];0.82[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 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	chr12:120807800-120814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120808600-120813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:120809200-120813600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120809200-120813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120809400-120814000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120809600-120813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:120811800-120814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:120812000-120813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:120813000-120813800	Enhancers	Fetal Intestine Small	intestine

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