Variant report

Variant	rs7313974
Chromosome Location	chr12:33165235-33165236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10844423	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844425	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844430	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844433	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11052365	0.88[ASN][1000 genomes]
rs11052381	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052383	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052394	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052402	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11832561	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834678	0.82[AMR][1000 genomes]
rs12227331	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227500	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227524	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12230100	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231642	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231850	0.83[JPT][hapmap]
rs12578358	0.95[EUR][1000 genomes]
rs12814889	0.92[EUR][1000 genomes]
rs1500057	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1500065	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846634	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133675	0.84[JPT][hapmap]
rs35273601	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36061762	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4460898	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58643342	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7138816	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7138830	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295685	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297914	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298037	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298039	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7299289	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309901	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313565	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313567	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314555	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315691	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9668952	0.84[AMR][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33164000-33166000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:33164200-33166200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:33164400-33165800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:33164400-33166200	Enhancers	Placenta	Placenta
5	chr12:33164600-33165600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:33164600-33165800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:33164600-33166000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:33164800-33165400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:33164800-33165800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:33164800-33166000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:33165000-33165400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:33165000-33165400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:33165000-33165400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:33165200-33165600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:33165200-33165600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:33165200-33165600	Flanking Active TSS	NHEK	skin

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