Variant report

Variant	rs72750403
Chromosome Location	chr9:94967549-94967550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:94967435-94967626	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000236115	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs15717	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16908281	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17590748	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17591007	0.88[EUR][1000 genomes]
rs17677599	1.00[ASN][1000 genomes]
rs17678735	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044540	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2230405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236343	0.83[EUR][1000 genomes]
rs2236344	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236529	0.88[EUR][1000 genomes]
rs2273860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274967	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28365880	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736834	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736836	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737147	0.83[EUR][1000 genomes]
rs3758228	0.88[EUR][1000 genomes]
rs3758230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758231	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758232	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41276835	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277647	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277739	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41280223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41297183	0.88[EUR][1000 genomes]
rs41301527	0.88[EUR][1000 genomes]
rs41307467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41312230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298540	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59083571	0.83[EUR][1000 genomes]
rs59627747	0.88[EUR][1000 genomes]
rs61742574	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67546506	0.83[EUR][1000 genomes]
rs72750404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750419	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750447	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750457	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750458	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750463	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750465	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750466	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750468	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750469	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750472	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750474	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750477	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750478	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750479	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750482	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750483	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750485	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750487	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750490	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750491	0.90[ASN][1000 genomes]
rs72750493	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750494	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750496	0.83[EUR][1000 genomes]
rs72750498	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750500	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750501	0.88[EUR][1000 genomes]
rs72750502	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752403	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752404	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752405	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752406	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752411	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752417	0.83[EUR][1000 genomes]
rs72752419	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752422	0.83[EUR][1000 genomes]
rs72752425	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752427	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752431	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752435	0.83[EUR][1000 genomes]
rs72752442	0.88[EUR][1000 genomes]
rs72752443	0.88[EUR][1000 genomes]
rs72752444	0.88[EUR][1000 genomes]
rs72752445	0.88[EUR][1000 genomes]
rs72752446	0.88[EUR][1000 genomes]
rs72752449	0.88[EUR][1000 genomes]
rs72752453	0.88[EUR][1000 genomes]
rs72752454	0.88[EUR][1000 genomes]
rs72752457	0.88[EUR][1000 genomes]
rs72752458	0.88[EUR][1000 genomes]
rs72752460	0.88[EUR][1000 genomes]
rs72752463	0.88[EUR][1000 genomes]
rs7872423	0.83[EUR][1000 genomes]
rs921122	0.88[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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94954400-94971000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:94959400-94969000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:94959400-94971200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94959400-94973200	Weak transcription	Pancreas	Pancrea
5	chr9:94959600-94969800	Weak transcription	Osteobl	bone
6	chr9:94959600-94970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:94960600-94970400	Weak transcription	Hela-S3	cervix
8	chr9:94966000-94973400	Weak transcription	Esophagus	oesophagus
9	chr9:94966600-94971200	Weak transcription	Fetal Intestine Large	intestine
10	chr9:94966800-94970800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:94967000-94971000	Weak transcription	HSMM	muscle
12	chr9:94967200-94968800	Weak transcription	A549	lung
13	chr9:94967200-94969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:94967200-94969800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:94967200-94970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:94967200-94970800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:94967200-94970800	Weak transcription	HSMMtube	muscle
18	chr9:94967400-94970200	Weak transcription	Left Ventricle	heart
19	chr9:94967400-94970400	Weak transcription	Primary T cells from cord blood	blood
20	chr9:94967400-94971000	Weak transcription	Brain Anterior Caudate	brain
21	chr9:94967400-94971000	Weak transcription	Fetal Brain Female	brain

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