Variant report

Variant	rs4723050
Chromosome Location	chr7:31174111-31174112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:31173825..31174457-chr7:31527917..31528804,3	K562	blood:
2	chr7:31022894..31023449-chr7:31173732..31174700,2	MCF-7	breast:
3	chr7:31173609..31174701-chr7:31775799..31776609,3	K562	blood:
4	chr7:31173914..31174731-chr7:31775253..31776670,4	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10085461	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10085492	0.91[AMR][1000 genomes]
rs10085745	0.91[AMR][1000 genomes]
rs10237966	0.91[AMR][1000 genomes]
rs12701052	0.91[AMR][1000 genomes]
rs13221064	0.91[AMR][1000 genomes]
rs13226292	0.87[AMR][1000 genomes]
rs34850468	0.91[AMR][1000 genomes]
rs4529362	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4723048	0.96[AMR][1000 genomes]
rs4723049	0.91[AMR][1000 genomes]
rs58153659	0.91[AMR][1000 genomes]
rs58394139	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462249	0.96[AMR][1000 genomes]
rs6944908	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6947279	0.95[AMR][1000 genomes]
rs6951732	0.91[AMR][1000 genomes]
rs6971437	0.91[AMR][1000 genomes]
rs6978940	0.95[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7784585	0.96[AMR][1000 genomes]
rs7799200	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7809482	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv915784	chr7:31134685-31870517	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1818009	chr7:31159190-31219838	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1849775	chr7:31159190-31219838	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv464419	chr7:31163003-31219838	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv606524	chr7:31163003-31219838	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr7:31168800-31174400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:31173200-31174600	Enhancers	Stomach Mucosa	stomach
3	chr7:31173400-31174400	Weak transcription	Fetal Brain Male	brain
4	chr7:31173800-31174600	Enhancers	Brain Hippocampus Middle	brain
5	chr7:31174000-31174200	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr7:31174000-31174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:31174000-31174600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:31174000-31174600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:31174000-31174600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr7:31174000-31174600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:31174000-31174600	Enhancers	Brain Anterior Caudate	brain
12	chr7:31174000-31174600	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:31174000-31174600	Enhancers	Lung	lung
14	chr7:31174000-31174600	Enhancers	Right Ventricle	heart
15	chr7:31174000-31174800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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