Variant report

Variant	rs12724000
Chromosome Location	chr1:190351677-190351678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:190350737..190353263-chr1:190362738..190364673,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10429905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs10800941	0.93[CEU][hapmap]
rs10920705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10920711	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs10920715	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs12025018	0.93[CEU][hapmap]
rs12030570	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs12032164	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12035557	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060478	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12065497	1.00[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs12082492	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs12091129	0.93[CEU][hapmap]
rs12095592	0.85[CEU][hapmap]
rs12097042	0.93[CEU][hapmap]
rs12732902	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs1442568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1442569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs1592251	0.82[CHD][hapmap]
rs16832305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832366	0.93[CEU][hapmap]
rs3931875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845237	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs61818785	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61818787	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6658194	0.93[CEU][hapmap]
rs6660355	0.93[CEU][hapmap]
rs6691819	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691910	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718609	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7527690	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7547903	0.93[CEU][hapmap]
rs980043	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv430013	chr1:190288297-190351677	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv872757	chr1:190351677-190418653	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv872758	chr1:190351677-190510003	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190350400-190352600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:190350600-190352800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:190351200-190352400	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links