Variant report

Variant	rs12148093
Chromosome Location	chr15:58328940-58328941
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:58326537-58337408	K562	blood:	n/a	n/a
2	RCOR1	chr15:58328807-58329152	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58328560..58331091-chr15:58356467..58358929,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10851630	0.84[CHB][hapmap];0.88[EUR][1000 genomes]
rs10851631	0.84[CHB][hapmap];0.88[EUR][1000 genomes]
rs10851633	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11071356	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11071365	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11071366	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11630835	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11852540	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11855259	0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11857461	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12148907	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12901462	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12903474	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12903551	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12903792	0.85[EUR][1000 genomes]
rs12907038	0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs12908953	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910113	0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs12910752	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12911071	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12914590	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12915693	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12915901	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372368	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17820823	0.84[EUR][1000 genomes]
rs3204689	0.84[CHB][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34871384	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35246600	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35511675	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784260	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs3784262	0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784263	0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs4238326	1.00[JPT][hapmap]
rs4369598	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646563	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646568	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4646571	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4646572	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4646576	0.84[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4646586	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646593	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646600	0.81[AFR][1000 genomes]
rs4646611	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646612	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646615	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4646616	0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs4646619	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646620	0.86[EUR][1000 genomes]
rs4646622	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646627	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646628	0.88[EUR][1000 genomes]
rs4646629	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646636	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4646638	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4646640	0.84[CHB][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7164408	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7165247	0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7170896	0.88[EUR][1000 genomes]
rs7178497	0.89[EUR][1000 genomes]
rs7495968	0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs8031133	0.81[AFR][1000 genomes]
rs8032107	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8033270	0.83[EUR][1000 genomes]
rs9325	0.84[CHB][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833023	chr15:58161839-58340174	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904261	chr15:58258424-58347260	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58325400-58329200	Weak transcription	K562	blood
2	chr15:58327200-58330400	Weak transcription	HMEC	breast
3	chr15:58327400-58330600	Weak transcription	NHEK	skin
4	chr15:58327400-58331000	Weak transcription	Psoas Muscle	Psoas
5	chr15:58328400-58332800	Enhancers	Fetal Kidney	kidney
6	chr15:58328800-58329000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:58328800-58329000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr15:58328800-58331200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr15:58328800-58332800	Enhancers	HUVEC	blood vessel
10	chr15:58328800-58333400	Enhancers	Fetal Lung	lung
11	chr15:58328800-58333800	Enhancers	Fetal Intestine Small	intestine

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