Variant report

Variant	rs2711732
Chromosome Location	chr12:105984734-105984735
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	chr12:105977751..105980929-chr12:105984066..105986199,3	K562	blood:
2	chr12:105984334..105986074-chr12:105987641..105989912,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735407	0.81[ASN][1000 genomes]
rs10861456	0.81[EUR][1000 genomes]
rs10861457	0.81[EUR][1000 genomes]
rs10861461	0.82[ASN][1000 genomes]
rs11112595	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112596	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1317555	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1526844	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526846	0.85[ASN][1000 genomes]
rs1806811	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1997174	0.81[EUR][1000 genomes]
rs2049571	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2049572	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2374514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2374515	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2694388	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2694390	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694394	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694395	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694398	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694399	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694400	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2694401	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694404	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711734	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711735	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711736	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711737	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2711739	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711741	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2888859	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4468444	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876929	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs885131	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs941105	0.89[EUR][1000 genomes];0.90[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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105982200-105989200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:105982200-105989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:105983400-105985200	Enhancers	HUVEC	blood vessel
4	chr12:105983800-105985400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105983800-105985600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:105984000-105985000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:105984000-105985000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:105984000-105985000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:105984000-105985400	Enhancers	NHEK	skin
10	chr12:105984000-105985600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:105984000-105985600	Enhancers	HMEC	breast
12	chr12:105984400-105985000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:105984400-105985000	Enhancers	Hela-S3	cervix
14	chr12:105984400-105985000	Enhancers	HSMM	muscle

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