Variant report

Variant	rs12972252
Chromosome Location	chr19:37937242-37937243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1015848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015849	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035479	0.90[EUR][1000 genomes]
rs10403582	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10403613	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10404602	0.84[EUR][1000 genomes]
rs10404920	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10404945	0.84[EUR][1000 genomes]
rs10405064	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10405325	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10405407	0.83[EUR][1000 genomes]
rs10406177	0.93[EUR][1000 genomes]
rs10407084	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409204	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10411574	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10412043	0.82[EUR][1000 genomes]
rs10413602	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10414904	0.83[EUR][1000 genomes]
rs10415024	0.84[EUR][1000 genomes]
rs10415358	0.84[EUR][1000 genomes]
rs10415937	0.83[EUR][1000 genomes]
rs10417503	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10417844	0.83[EUR][1000 genomes]
rs10420430	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10420722	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420754	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10422074	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10422423	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10422667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422967	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10424574	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10426618	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10426666	0.84[EUR][1000 genomes]
rs10426699	0.84[EUR][1000 genomes]
rs11083426	0.87[EUR][1000 genomes]
rs12104380	0.81[EUR][1000 genomes]
rs12104381	0.83[EUR][1000 genomes]
rs12709813	0.83[EUR][1000 genomes]
rs12979470	0.95[EUR][1000 genomes]
rs12981532	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13343471	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343485	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13343502	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13345116	0.83[EUR][1000 genomes]
rs13345148	0.82[EUR][1000 genomes]
rs1373991	0.83[EUR][1000 genomes]
rs1382357	0.93[EUR][1000 genomes]
rs1559229	0.83[EUR][1000 genomes]
rs2045908	0.93[EUR][1000 genomes]
rs2081096	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2112920	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112922	0.92[EUR][1000 genomes]
rs2112923	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2126977	0.88[EUR][1000 genomes]
rs2279148	0.86[EUR][1000 genomes]
rs2279149	0.86[EUR][1000 genomes]
rs2291004	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373708	0.93[EUR][1000 genomes]
rs28402338	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28538699	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28605784	0.91[EUR][1000 genomes]
rs28623164	0.95[EUR][1000 genomes]
rs2891699	0.95[EUR][1000 genomes]
rs35085437	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35540940	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35777021	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3745765	0.84[EUR][1000 genomes]
rs3760825	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3803895	0.90[EUR][1000 genomes]
rs4417644	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4452075	0.84[EUR][1000 genomes]
rs4801759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4801803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802766	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802889	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803195	0.81[EUR][1000 genomes]
rs4803229	0.86[EUR][1000 genomes]
rs4803347	0.83[EUR][1000 genomes]
rs4803460	0.90[EUR][1000 genomes]
rs4803539	0.90[EUR][1000 genomes]
rs4969487	0.85[EUR][1000 genomes]
rs59224125	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62110394	0.81[EUR][1000 genomes]
rs6508711	0.82[EUR][1000 genomes]
rs6508716	0.81[EUR][1000 genomes]
rs6508719	0.83[EUR][1000 genomes]
rs6508732	0.89[EUR][1000 genomes]
rs6508733	0.89[EUR][1000 genomes]
rs713256	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246993	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7247259	0.83[EUR][1000 genomes]
rs7248733	0.87[EUR][1000 genomes]
rs7252099	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252325	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7252346	0.95[EUR][1000 genomes]
rs7253091	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7253114	0.90[EUR][1000 genomes]
rs7255140	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7255407	0.95[EUR][1000 genomes]
rs7255785	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7255952	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7255972	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255996	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7256130	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7257495	0.82[EUR][1000 genomes]
rs7257672	0.82[EUR][1000 genomes]
rs7258692	0.84[EUR][1000 genomes]
rs7259968	0.82[EUR][1000 genomes]
rs73631095	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7408133	0.84[EUR][1000 genomes]
rs7408563	0.84[EUR][1000 genomes]
rs8106839	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8109038	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8109632	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8111782	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8112610	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9304566	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9676739	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9676967	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9917081	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
2	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37911200-37954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37925000-37943400	Weak transcription	HSMM	muscle
5	chr19:37928800-37938600	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:37932400-37940200	Weak transcription	NH-A	brain
7	chr19:37934000-37937600	Weak transcription	Osteobl	bone
8	chr19:37934800-37939600	Weak transcription	Pancreas	Pancrea
9	chr19:37935200-37937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:37935200-37938200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:37935400-37937400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:37936000-37944800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:37936600-37938200	Weak transcription	Monocytes-CD14+_RO01746	blood

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