Variant report

Variant	rs4301244
Chromosome Location	chr5:95527777-95527778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10066966	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10073073	0.82[ASN][1000 genomes]
rs10463169	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476669	0.82[EUR][1000 genomes]
rs10866766	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135447	0.98[ASN][1000 genomes]
rs11135448	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135451	0.95[ASN][1000 genomes]
rs11742368	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11742915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11749674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12519062	1.00[ASN][1000 genomes]
rs12523580	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652939	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12652970	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12653663	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12659174	0.85[ASN][1000 genomes]
rs13173638	0.82[EUR][1000 genomes]
rs13183250	1.00[ASN][1000 genomes]
rs13190432	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13358858	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs271917	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs3922469	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4077817	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4267884	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4492136	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4559022	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4569897	0.85[ASN][1000 genomes]
rs4626359	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869281	0.82[ASN][1000 genomes]
rs56699153	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59090200	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59238624	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618257	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6556909	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877002	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6877070	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878441	0.82[ASN][1000 genomes]
rs6879773	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap]
rs6880865	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6883290	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6895145	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895197	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895503	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6895664	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138312	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138313	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138324	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138336	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138348	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138350	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138358	0.95[ASN][1000 genomes]
rs73138366	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73138380	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7447567	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7700756	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7701835	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7706272	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707839	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7714065	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7731306	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734553	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735670	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95513600-95532200	Weak transcription	Pancreas	Pancrea
2	chr5:95523800-95532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:95523800-95539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:95526000-95529600	Weak transcription	Stomach Mucosa	stomach
5	chr5:95526200-95530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:95526400-95530400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:95526600-95529400	Weak transcription	HepG2	liver
8	chr5:95527200-95530600	Weak transcription	NHEK	skin

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