Variant report

Variant	rs479996
Chromosome Location	chr5:43111695-43111696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43065124..43066693-chr5:43111568..43113818,2	MCF-7	breast:
2	chr5:43109727..43112275-chr5:43377801..43380719,2	K562	blood:
3	chr5:43105944..43108297-chr5:43109238..43111708,2	K562	blood:
4	chr5:43103618..43114075-chr5:43115760..43123048,23	MCF-7	breast:
5	chr5:43103922..43107081-chr5:43109659..43112265,3	MCF-7	breast:
6	chr5:43110951..43112788-chr5:43310540..43313472,2	MCF-7	breast:
7	chr5:43110805..43112724-chr5:43118633..43123130,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10044382	0.89[ASN][1000 genomes]
rs10058350	0.91[ASN][1000 genomes]
rs10058374	0.91[ASN][1000 genomes]
rs10070751	0.89[ASN][1000 genomes]
rs10074873	0.87[ASN][1000 genomes]
rs10075647	0.87[ASN][1000 genomes]
rs10214190	0.87[ASN][1000 genomes]
rs10805667	0.86[ASN][1000 genomes]
rs13176429	0.91[ASN][1000 genomes]
rs13665	0.89[ASN][1000 genomes]
rs1532330	0.93[ASN][1000 genomes]
rs1532331	0.93[ASN][1000 genomes]
rs1618891	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1624415	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1628981	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1690994	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1690997	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2453308	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33910990	0.81[ASN][1000 genomes]
rs4498259	0.89[ASN][1000 genomes]
rs4866808	0.89[ASN][1000 genomes]
rs4866971	0.91[ASN][1000 genomes]
rs499436	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs511340	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512040	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs512921	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs521649	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs541143	0.91[ASN][1000 genomes]
rs544402	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs555276	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs557076	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs567884	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs574051	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57689195	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs579337	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs579363	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61004923	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61121229	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62367758	0.89[AFR][1000 genomes]
rs6414900	0.91[ASN][1000 genomes]
rs6451672	0.84[ASN][1000 genomes]
rs6451674	0.93[ASN][1000 genomes]
rs6451675	0.93[ASN][1000 genomes]
rs6862639	0.89[ASN][1000 genomes]
rs6864955	0.89[ASN][1000 genomes]
rs6870418	0.93[ASN][1000 genomes]
rs6876746	0.89[ASN][1000 genomes]
rs6884303	0.91[ASN][1000 genomes]
rs6892422	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6894506	0.84[ASN][1000 genomes]
rs7712046	0.91[ASN][1000 genomes]
rs7723426	0.84[ASN][1000 genomes]
rs7730004	0.87[ASN][1000 genomes]
rs782971	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs782972	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs782976	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs782977	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs782978	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs782984	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs782987	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs782989	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs782994	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs782996	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs903391	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv981009	chr5:43101558-43114874	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs479996	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 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	chr5:43106400-43116200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:43108600-43111800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:43110200-43111800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:43111400-43120200	Weak transcription	HepG2	liver
10	chr5:43111400-43120600	Weak transcription	Thymus	Thymus
11	chr5:43111600-43120600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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