Variant report

Variant	rs7316127
Chromosome Location	chr12:46674249-46674250
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46661340..46664097-chr12:46672513..46674779,3	K562	blood:
2	chr12:46672597..46675328-chr12:46766468..46768350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10467213	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1060735	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079780	0.82[EUR][1000 genomes]
rs10880947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[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]
rs10880953	0.87[EUR][1000 genomes]
rs10880959	0.81[EUR][1000 genomes]
rs10880960	0.80[EUR][1000 genomes]
rs11183420	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183441	0.87[EUR][1000 genomes]
rs11183478	0.84[MEX][hapmap]
rs11183483	0.84[MEX][hapmap]
rs11504511	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12298619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302984	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12310125	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12311507	0.87[EUR][1000 genomes]
rs12317787	0.81[EUR][1000 genomes]
rs12580583	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12813763	0.84[MEX][hapmap]
rs12816358	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12816413	0.86[EUR][1000 genomes]
rs12824565	0.84[MEX][hapmap]
rs1471223	0.80[EUR][1000 genomes]
rs1492892	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1492894	0.80[EUR][1000 genomes]
rs1586905	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2018424	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2045556	0.91[AMR][1000 genomes]
rs2087834	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2131371	0.84[MEX][hapmap]
rs2169030	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2172398	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2242355	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2279560	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307061	0.81[EUR][1000 genomes]
rs2408496	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2408504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2408505	0.88[EUR][1000 genomes]
rs2408506	0.83[EUR][1000 genomes]
rs2408508	0.81[EUR][1000 genomes]
rs2897968	0.86[ASW][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap]
rs34119192	0.88[EUR][1000 genomes]
rs35123676	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35497251	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3782904	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs4077708	0.84[MEX][hapmap]
rs4238102	0.85[EUR][1000 genomes]
rs4438106	0.88[EUR][1000 genomes]
rs4547171	0.81[EUR][1000 genomes]
rs4586238	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768110	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768111	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768113	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768115	0.80[EUR][1000 genomes]
rs4768116	0.81[EUR][1000 genomes]
rs4768118	0.84[MEX][hapmap]
rs4768123	0.84[MEX][hapmap]
rs4768694	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768695	0.87[EUR][1000 genomes]
rs4768696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4768698	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs4768716	0.84[MEX][hapmap]
rs4768723	0.84[MEX][hapmap]
rs59919892	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6582625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582657	0.84[MEX][hapmap]
rs7132228	0.81[EUR][1000 genomes]
rs7134855	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7297536	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7310869	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7314069	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7315493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316773	1.00[CEU][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7953659	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7958774	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7959731	0.84[MEX][hapmap]
rs7960147	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs7961994	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs7965629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967669	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7968173	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.92[TSI][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs7968283	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs7970911	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7974529	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs7976362	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7979418	0.86[ASW][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs7979514	0.87[EUR][1000 genomes]
rs7980775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898242	0.87[EUR][1000 genomes]
rs956910	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs9669051	0.82[EUR][1000 genomes]
rs9669404	0.84[MEX][hapmap]
rs9795971	0.83[EUR][1000 genomes]
rs9971879	0.84[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46664000-46675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46664200-46677400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46665200-46677200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:46665400-46676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:46665600-46675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:46666800-46676200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:46670800-46674400	Weak transcription	Fetal Thymus	thymus
8	chr12:46671600-46674400	Weak transcription	Primary B cells from cord blood	blood
9	chr12:46674200-46674400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:46674200-46675000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links