Variant report

Variant	rs12999683
Chromosome Location	chr2:141193790-141193791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10188432	1.00[CHB][hapmap]
rs11884294	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11891221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895957	0.86[AMR][1000 genomes]
rs11897270	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11898162	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11899167	0.82[ASN][1000 genomes]
rs11899434	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903109	0.82[ASN][1000 genomes]
rs11903329	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12990666	1.00[CHB][hapmap]
rs13003817	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007837	1.00[CHB][hapmap]
rs13023944	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13030091	0.87[EUR][1000 genomes]
rs13030114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422213	1.00[JPT][hapmap]
rs1401114	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401115	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401117	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1518440	1.00[JPT][hapmap]
rs1518443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518444	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1518445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1518446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607387	1.00[JPT][hapmap]
rs16843964	1.00[CHB][hapmap]
rs16843975	1.00[CHB][hapmap]
rs16843984	1.00[CHB][hapmap]
rs16843999	1.00[CHB][hapmap]
rs16844001	1.00[CHB][hapmap]
rs17387292	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17387299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387536	0.82[ASN][1000 genomes]
rs17478629	1.00[JPT][hapmap]
rs1878741	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1878742	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949452	1.00[CHB][hapmap]
rs2030240	1.00[CHB][hapmap]
rs2030241	1.00[CHB][hapmap]
rs41323147	1.00[JPT][hapmap]
rs41478345	1.00[JPT][hapmap]
rs4293513	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4450541	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4474828	0.82[ASN][1000 genomes]
rs474084	1.00[CHB][hapmap]
rs487419	1.00[CHB][hapmap]
rs491391	1.00[CHB][hapmap]
rs492190	1.00[CHB][hapmap]
rs503742	1.00[CHB][hapmap]
rs6723181	1.00[CHB][hapmap]
rs6730266	1.00[CHB][hapmap]
rs6744731	1.00[CHB][hapmap]
rs6747180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895991	0.90[AMR][1000 genomes]
rs72897813	0.82[ASN][1000 genomes]
rs72897827	0.82[ASN][1000 genomes]
rs72897830	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72899862	0.82[ASN][1000 genomes]
rs72899866	0.82[ASN][1000 genomes]
rs72899869	0.82[ASN][1000 genomes]
rs72899900	0.91[ASN][1000 genomes]
rs72901703	0.91[ASN][1000 genomes]
rs72901708	0.91[ASN][1000 genomes]
rs72901711	0.91[ASN][1000 genomes]
rs72901714	0.91[ASN][1000 genomes]
rs72901723	0.91[ASN][1000 genomes]
rs72901724	0.91[ASN][1000 genomes]
rs72901730	0.82[ASN][1000 genomes]
rs7422845	1.00[JPT][hapmap]
rs7423992	0.91[ASN][1000 genomes]
rs7581949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7593984	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][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	esv2754266	chr2:141023643-141270786	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875186	chr2:141123496-141217244	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv2756334	chr2:141166521-141285622	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv875187	chr2:141170340-141237995	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141193200-141194600	Weak transcription	Fetal Lung	lung
2	chr2:141193600-141194000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:141193600-141194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links