Variant report

Variant	rs12122593
Chromosome Location	chr1:210974545-210974546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10465689	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10465690	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11119591	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11119592	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11119604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1122901	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12117136	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12122556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122589	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122869	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12134429	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12134632	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12137464	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12139273	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12139474	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143524	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12564968	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12566698	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1340124	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1340125	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1934612	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1934613	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1934614	0.89[EUR][1000 genomes]
rs2185384	0.92[EUR][1000 genomes]
rs4951462	0.89[EUR][1000 genomes]
rs4951605	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56264689	0.88[EUR][1000 genomes]
rs56383511	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61829490	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61829492	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61829493	0.88[EUR][1000 genomes]
rs61829496	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61829499	0.89[EUR][1000 genomes]
rs6694502	0.89[EUR][1000 genomes]
rs73069563	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73069564	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73069573	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73069579	0.85[EUR][1000 genomes]
rs7519357	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7532333	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7541814	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 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	chr1:210941800-210978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210965800-210975600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210966800-210976800	Weak transcription	A549	lung
4	chr1:210967000-210979600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:210967400-210985000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:210970800-210975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:210971000-210978800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:210971200-210976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:210973400-210974600	Enhancers	Brain Angular Gyrus	brain
10	chr1:210973400-210975000	Enhancers	Placenta	Placenta
11	chr1:210973600-210974600	Weak transcription	Esophagus	oesophagus
12	chr1:210973800-210975600	Enhancers	Fetal Heart	heart
13	chr1:210974000-210975000	Genic enhancers	HSMMtube	muscle
14	chr1:210974000-210975800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:210974200-210977600	Strong transcription	HSMM	muscle
16	chr1:210974400-210974800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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