Variant report

Variant	rs12519062
Chromosome Location	chr5:95506086-95506087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10066966	0.82[ASN][1000 genomes]
rs10073073	0.82[ASN][1000 genomes]
rs10463169	1.00[ASN][1000 genomes]
rs10866766	0.98[ASN][1000 genomes]
rs11135447	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135448	1.00[ASN][1000 genomes]
rs11135449	0.98[ASN][1000 genomes]
rs11135451	0.95[ASN][1000 genomes]
rs11742368	0.97[ASN][1000 genomes]
rs11742915	0.98[ASN][1000 genomes]
rs11749674	0.98[ASN][1000 genomes]
rs12523580	0.97[ASN][1000 genomes]
rs12652939	0.85[ASN][1000 genomes]
rs12652970	0.85[ASN][1000 genomes]
rs12653663	0.84[ASN][1000 genomes]
rs12659174	0.85[ASN][1000 genomes]
rs13183250	1.00[ASN][1000 genomes]
rs13190432	0.82[ASN][1000 genomes]
rs13358858	1.00[ASN][1000 genomes]
rs3922469	0.84[ASN][1000 genomes]
rs4077817	0.92[ASN][1000 genomes]
rs4267884	0.82[ASN][1000 genomes]
rs4301244	1.00[ASN][1000 genomes]
rs4492136	0.85[ASN][1000 genomes]
rs4559022	0.82[ASN][1000 genomes]
rs4569897	0.85[ASN][1000 genomes]
rs4626359	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4869281	0.82[ASN][1000 genomes]
rs56699153	0.90[ASN][1000 genomes]
rs59090200	0.97[ASN][1000 genomes]
rs59238624	1.00[ASN][1000 genomes]
rs61618257	0.84[ASN][1000 genomes]
rs6556909	1.00[ASN][1000 genomes]
rs6862359	1.00[ASN][1000 genomes]
rs6877002	0.90[ASN][1000 genomes]
rs6877070	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6877397	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6878441	0.82[ASN][1000 genomes]
rs6880865	0.84[ASN][1000 genomes]
rs6883290	0.90[ASN][1000 genomes]
rs6895145	1.00[ASN][1000 genomes]
rs6895197	1.00[ASN][1000 genomes]
rs6895503	0.84[ASN][1000 genomes]
rs6895664	0.98[ASN][1000 genomes]
rs73138312	1.00[ASN][1000 genomes]
rs73138313	1.00[ASN][1000 genomes]
rs73138318	1.00[ASN][1000 genomes]
rs73138324	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73138336	0.98[ASN][1000 genomes]
rs73138348	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73138350	0.97[ASN][1000 genomes]
rs73138358	0.95[ASN][1000 genomes]
rs73138366	0.95[ASN][1000 genomes]
rs73138380	0.90[ASN][1000 genomes]
rs7447567	0.82[ASN][1000 genomes]
rs7700756	0.82[ASN][1000 genomes]
rs7701835	0.82[ASN][1000 genomes]
rs7706272	1.00[ASN][1000 genomes]
rs7707839	0.81[ASN][1000 genomes]
rs7714065	0.82[ASN][1000 genomes]
rs7731306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7734553	1.00[ASN][1000 genomes]
rs7735346	1.00[ASN][1000 genomes]
rs7735670	0.82[AMR][1000 genomes];0.99[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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035022	chr5:95487901-95526796	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95486800-95506400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:95494000-95511600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:95495000-95508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:95495000-95508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95504800-95507800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:95505800-95506800	Enhancers	Liver	Liver
7	chr5:95505800-95507800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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