Variant report

Variant	rs2005510
Chromosome Location	chr5:43119383-43119384
allele	A/C
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	chr5:43119378-43119587	HepG2	liver:	n/a	n/a
2	HCFC1	chr5:43119222-43122816	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43118701..43121317-chr5:43476205..43478903,2	MCF-7	breast:
2	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
3	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:

Variant related genes	Relation type
ZNF131	TF binding region
ENSG00000172239	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1001717	0.96[EUR][1000 genomes]
rs12657208	0.86[EUR][1000 genomes]
rs13153077	0.91[EUR][1000 genomes]
rs13153860	0.91[EUR][1000 genomes]
rs13154654	0.90[EUR][1000 genomes]
rs13158800	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159390	0.96[EUR][1000 genomes]
rs13161127	0.95[EUR][1000 genomes]
rs13163892	0.91[EUR][1000 genomes]
rs13164183	0.91[EUR][1000 genomes]
rs13166780	0.95[EUR][1000 genomes]
rs13167375	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13167690	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13171253	0.95[EUR][1000 genomes]
rs13172378	0.95[EUR][1000 genomes]
rs13174772	0.96[EUR][1000 genomes]
rs13178478	0.91[EUR][1000 genomes]
rs13181290	0.95[EUR][1000 genomes]
rs13186091	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13186549	0.89[EUR][1000 genomes]
rs13189565	0.89[EUR][1000 genomes]
rs13189574	0.95[EUR][1000 genomes]
rs13190109	0.91[EUR][1000 genomes]
rs16873177	0.95[EUR][1000 genomes]
rs17242731	0.96[EUR][1000 genomes]
rs17242995	0.95[EUR][1000 genomes]
rs17243023	0.95[EUR][1000 genomes]
rs17243086	0.95[EUR][1000 genomes]
rs17243165	0.89[EUR][1000 genomes]
rs17243515	0.89[EUR][1000 genomes]
rs17302596	0.95[EUR][1000 genomes]
rs17302931	0.88[EUR][1000 genomes]
rs28548198	0.96[EUR][1000 genomes]
rs34071473	0.95[EUR][1000 genomes]
rs34205479	0.95[EUR][1000 genomes]
rs34242142	0.91[EUR][1000 genomes]
rs34258100	0.91[EUR][1000 genomes]
rs34302880	0.92[EUR][1000 genomes]
rs34333393	0.95[EUR][1000 genomes]
rs34375419	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448278	0.91[EUR][1000 genomes]
rs34517361	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34552214	0.95[EUR][1000 genomes]
rs34973629	0.95[EUR][1000 genomes]
rs34992478	0.95[EUR][1000 genomes]
rs35018789	0.95[EUR][1000 genomes]
rs35106307	0.91[EUR][1000 genomes]
rs35199583	0.96[EUR][1000 genomes]
rs35230086	0.95[EUR][1000 genomes]
rs35285338	0.91[EUR][1000 genomes]
rs35321959	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35397154	0.91[EUR][1000 genomes]
rs35484826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35593061	0.84[EUR][1000 genomes]
rs35645372	0.91[EUR][1000 genomes]
rs35665483	0.94[EUR][1000 genomes]
rs35673052	0.91[EUR][1000 genomes]
rs35754881	0.96[EUR][1000 genomes]
rs35759340	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837951	1.00[ASN][1000 genomes]
rs35839054	0.89[EUR][1000 genomes]
rs35855029	0.91[EUR][1000 genomes]
rs35859204	0.89[EUR][1000 genomes]
rs35949944	0.95[EUR][1000 genomes]
rs35998500	0.95[EUR][1000 genomes]
rs36054188	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36106080	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122541	0.95[EUR][1000 genomes]
rs36125638	0.90[EUR][1000 genomes]
rs3752831	0.91[EUR][1000 genomes]
rs3752832	0.91[EUR][1000 genomes]
rs3797306	0.96[EUR][1000 genomes]
rs3797307	0.96[EUR][1000 genomes]
rs3797308	0.96[EUR][1000 genomes]
rs3797309	0.96[EUR][1000 genomes]
rs503965	0.81[EUR][1000 genomes]
rs505573	0.81[EUR][1000 genomes]
rs56889091	0.91[EUR][1000 genomes]
rs56923657	0.94[EUR][1000 genomes]
rs58028166	0.89[EUR][1000 genomes]
rs67190423	0.95[EUR][1000 genomes]
rs67596313	0.96[EUR][1000 genomes]
rs67756718	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590635	0.95[EUR][1000 genomes]
rs71627575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627578	0.97[EUR][1000 genomes]
rs71627579	0.95[EUR][1000 genomes]
rs71627580	0.95[EUR][1000 genomes]
rs71627583	0.94[EUR][1000 genomes]
rs71627584	0.95[EUR][1000 genomes]
rs71627585	0.91[EUR][1000 genomes]
rs71627586	0.91[EUR][1000 genomes]
rs71627587	0.88[EUR][1000 genomes]
rs72748883	0.96[EUR][1000 genomes]
rs72748886	0.87[EUR][1000 genomes]
rs72748897	0.96[EUR][1000 genomes]
rs72750704	0.96[EUR][1000 genomes]
rs72750764	0.96[EUR][1000 genomes]
rs72750780	0.95[EUR][1000 genomes]
rs878234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS 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 target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2005510	ZNF131	cis	Artery Tibial	GTEx
rs2005510	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43106000-43120400	Weak transcription	Fetal Brain Female	brain
2	chr5:43106000-43120600	Weak transcription	Left Ventricle	heart
3	chr5:43106200-43120400	Weak transcription	Fetal Stomach	stomach
4	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:43111400-43120200	Weak transcription	HepG2	liver
7	chr5:43111400-43120600	Weak transcription	Thymus	Thymus
8	chr5:43111600-43120600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43116800-43120800	Weak transcription	Psoas Muscle	Psoas
10	chr5:43117000-43120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:43117000-43120000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:43117200-43120600	Weak transcription	HSMMtube	muscle
13	chr5:43117400-43121800	Weak transcription	Fetal Heart	heart
14	chr5:43118200-43120600	Weak transcription	Muscle Satellite Cultured Cells	--

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