Variant report

Variant	rs1532330
Chromosome Location	chr5:43116752-43116753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43116495..43119356-chr5:43137297..43139647,2	K562	blood:
2	chr5:43039925..43041733-chr5:43116522..43118130,2	K562	blood:
3	chr5:43113284..43118877-chr5:43119380..43123455,9	MCF-7	breast:
4	chr5:43101287..43104351-chr5:43114086..43116858,3	K562	blood:
5	chr5:43112986..43115298-chr5:43115307..43117601,3	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10044382	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10058350	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058374	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10070751	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074873	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10075647	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10076858	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10214190	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10805667	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10941611	0.85[ASN][1000 genomes]
rs13176429	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13665	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532331	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33910990	0.88[ASN][1000 genomes]
rs4498259	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs479996	0.93[ASN][1000 genomes]
rs4866808	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866971	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511340	0.87[ASN][1000 genomes]
rs541143	0.92[ASN][1000 genomes]
rs6414900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451672	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6451674	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451675	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862639	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864955	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6870418	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876746	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6884303	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894506	0.91[ASN][1000 genomes]
rs7712046	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7723426	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7730004	0.80[EUR][1000 genomes];0.94[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1532330	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 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	chr5:43114800-43117000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:43116200-43117000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:43116400-43116800	Enhancers	Psoas Muscle	Psoas
12	chr5:43116400-43117200	Enhancers	HSMMtube	muscle

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