Variant report

Variant	rs2352048
Chromosome Location	chr12:31709076-31709077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10743757	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743759	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771827	0.81[EUR][1000 genomes]
rs10771828	0.82[EUR][1000 genomes]
rs10771832	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771838	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771843	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771844	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10771845	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771846	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843942	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843958	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843959	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843963	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051418	0.82[EUR][1000 genomes]
rs11051435	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051437	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051439	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051441	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11615961	0.81[EUR][1000 genomes]
rs1259355	0.87[ASN][1000 genomes]
rs1259428	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1259432	0.81[ASN][1000 genomes]
rs1271128	0.86[ASN][1000 genomes]
rs1469673	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1996693	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116704	0.83[EUR][1000 genomes]
rs3803113	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3844573	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3853626	0.83[EUR][1000 genomes]
rs3898368	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4482118	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930980	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931488	0.83[EUR][1000 genomes]
rs4931501	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4931506	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4931507	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6416254	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6487992	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487996	0.89[EUR][1000 genomes]
rs66521153	0.81[EUR][1000 genomes]
rs7133082	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7134365	0.82[EUR][1000 genomes]
rs7135856	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7136476	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136943	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137406	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7294574	0.82[EUR][1000 genomes]
rs7302698	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7303447	0.81[EUR][1000 genomes]
rs7303848	0.80[EUR][1000 genomes]
rs7307593	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307616	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313118	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7313689	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7314417	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7954023	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954595	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957026	0.89[EUR][1000 genomes]
rs7959877	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962896	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963161	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7967832	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7968291	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7974437	0.94[ASN][1000 genomes]
rs7975761	0.82[EUR][1000 genomes]
rs7976644	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7977453	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9738834	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv983241	chr12:31701617-31712747	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31689000-31713000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:31696200-31722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:31708000-31711200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:31708600-31709400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:31708600-31709600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:31708600-31709600	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr12:31708800-31709200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:31708800-31709800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr12:31709000-31709600	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links