Variant report

Variant	rs17303482
Chromosome Location	chr5:43236708-43236709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43235429..43237526-chr5:43312144..43314588,2	MCF-7	breast:
2	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
3	chr5:43229559..43232274-chr5:43236155..43239075,3	K562	blood:
4	chr5:43236682..43238886-chr5:43241349..43243253,2	K562	blood:
5	chr5:43235885..43238229-chr5:43348836..43351666,2	MCF-7	breast:
6	chr5:43232169..43234806-chr5:43235762..43237499,2	K562	blood:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction
ENSG00000247763	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10044743	1.00[CHB][hapmap]
rs1084520	1.00[ASN][1000 genomes]
rs13154319	1.00[CHB][hapmap]
rs13155023	1.00[CHB][hapmap]
rs13158147	1.00[ASN][1000 genomes]
rs13160133	0.80[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164889	0.88[TSI][hapmap]
rs13167375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13167991	1.00[ASN][1000 genomes]
rs13169195	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	1.00[ASN][1000 genomes]
rs13180496	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13180902	1.00[CHB][hapmap]
rs13186091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2085100	1.00[CHB][hapmap]
rs34157680	1.00[ASN][1000 genomes]
rs34517361	1.00[ASN][1000 genomes]
rs34735159	1.00[ASN][1000 genomes]
rs34810824	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35764948	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505573	1.00[ASN][1000 genomes]
rs614386	1.00[ASN][1000 genomes]
rs632730	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71627588	0.80[EUR][1000 genomes]
rs71627591	0.80[EUR][1000 genomes]
rs71627592	0.94[EUR][1000 genomes]
rs71627594	0.90[EUR][1000 genomes]
rs878234	1.00[CHB][hapmap];0.91[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43215600-43236800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:43233000-43238600	Weak transcription	K562	blood
8	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
11	chr5:43234800-43243600	Weak transcription	GM12878-XiMat	blood
12	chr5:43236600-43236800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:43236600-43237000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:43236600-43237400	Enhancers	Adipose Nuclei	Adipose

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