Variant report

Variant	rs13176080
Chromosome Location	chr5:43006491-43006492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
2	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
3	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
4	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
5	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
6	chr5:43006142..43009170-chr5:43482864..43485007,3	K562	blood:
7	chr5:43004507..43007479-chr5:43040850..43043022,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10045847	1.00[CHB][hapmap]
rs10045863	1.00[CHB][hapmap]
rs10067153	1.00[CHB][hapmap]
rs10072083	1.00[CHB][hapmap]
rs1084520	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550288	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156403	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156729	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158147	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13167991	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170322	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170959	1.00[ASN][1000 genomes]
rs13171192	1.00[ASN][1000 genomes]
rs13174226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175754	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180496	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13186091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17302931	0.81[CEU][hapmap]
rs2085100	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34157680	1.00[ASN][1000 genomes]
rs34215864	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34345245	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517361	1.00[ASN][1000 genomes]
rs34735159	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34922908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34967469	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030460	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197809	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322710	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35334781	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484387	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594379	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35756781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36048737	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs505573	1.00[ASN][1000 genomes]
rs614386	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632730	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863953	1.00[CHB][hapmap]
rs71627567	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627568	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs878234	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
14	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13176080	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42997200-43007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:43000800-43007000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:43001000-43006600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:43001000-43007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:43001000-43007600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:43001200-43006600	Weak transcription	HUVEC	blood vessel
7	chr5:43001400-43007200	Weak transcription	NHLF	lung
8	chr5:43001400-43007400	Weak transcription	HMEC	breast
9	chr5:43001600-43006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:43001800-43007200	Weak transcription	Primary T cells from cord blood	blood
11	chr5:43001800-43007400	Weak transcription	HepG2	liver
12	chr5:43004800-43007000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:43005400-43007200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:43005600-43007000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:43005600-43007200	Enhancers	A549	lung
16	chr5:43006000-43006600	Weak transcription	Osteobl	bone
17	chr5:43006400-43006600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:43006400-43006600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:43006400-43006600	Enhancers	NHEK	skin
20	chr5:43006400-43007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:43006400-43007000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:43006400-43007200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:43006400-43007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:43006400-43007200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:43006400-43007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:43006400-43007200	Enhancers	Dnd41	blood
27	chr5:43006400-43007200	Enhancers	Hela-S3	cervix
28	chr5:43006400-43007400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43006400-43007400	Enhancers	K562	blood

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