Variant report

Variant	rs73306482
Chromosome Location	chr8:91005485-91005486
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91004660..91006656-chr8:91014617..91016770,2	MCF-7	breast:
2	chr8:90999485..91002271-chr8:91003873..91006059,2	MCF-7	breast:
3	chr8:91001359..91005873-chr8:91011034..91014755,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10435550	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10435551	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10504888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13312883	0.97[AFR][1000 genomes]
rs13312894	0.97[AFR][1000 genomes]
rs13312897	0.97[AFR][1000 genomes]
rs13312905	0.97[AFR][1000 genomes]
rs13312921	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13312925	0.97[AFR][1000 genomes]
rs13312937	0.97[AFR][1000 genomes]
rs13312951	0.93[AFR][1000 genomes]
rs13312954	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16901941	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16902273	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16902355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16902558	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805811	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805814	0.97[AFR][1000 genomes]
rs1805815	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805819	0.97[AFR][1000 genomes]
rs1805824	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805826	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805827	0.97[AFR][1000 genomes]
rs1805828	0.97[AFR][1000 genomes]
rs1805837	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805850	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805855	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805862	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805880	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805882	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805885	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805892	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805894	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805901	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805902	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805907	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805911	0.81[EUR][1000 genomes]
rs1805912	0.81[EUR][1000 genomes]
rs1805914	0.81[EUR][1000 genomes]
rs1805915	0.81[EUR][1000 genomes]
rs2074594	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074595	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280779	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3026287	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3358	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4477076	0.81[EUR][1000 genomes]
rs6989727	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769418	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818138	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822786	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826471	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830738	0.81[ASN][1000 genomes]
rs7834282	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7844005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845572	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845669	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv971247	chr8:91001504-91007330	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:91004600-91005600	Enhancers	HepG2	liver
4	chr8:91004600-91005600	Enhancers	NHEK	skin
5	chr8:91004600-91006400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:91004800-91005800	Enhancers	HMEC	breast
7	chr8:91004800-91006000	Enhancers	A549	lung
8	chr8:91004800-91007400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:91005000-91005800	Enhancers	Fetal Heart	heart
10	chr8:91005000-91005800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:91005200-91005800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:91005200-91006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:91005200-91006200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:91005200-91007400	Weak transcription	K562	blood
15	chr8:91005400-91006000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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