Variant report

Variant	rs4948872
Chromosome Location	chr10:44810629-44810630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44803835..44808039-chr10:44810425..44813828,4	K562	blood:
2	chr10:44804505..44808299-chr10:44810084..44813443,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10900006	1.00[EUR][1000 genomes]
rs11238910	1.00[EUR][1000 genomes]
rs11238914	1.00[EUR][1000 genomes]
rs11238917	1.00[EUR][1000 genomes]
rs11238922	1.00[EUR][1000 genomes]
rs11238926	1.00[EUR][1000 genomes]
rs11238931	1.00[EUR][1000 genomes]
rs11238932	1.00[EUR][1000 genomes]
rs11238973	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238974	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238975	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238977	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238980	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238981	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11528515	1.00[EUR][1000 genomes]
rs11528516	1.00[EUR][1000 genomes]
rs11528517	1.00[EUR][1000 genomes]
rs1159931	0.86[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes]
rs12220724	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12221014	1.00[EUR][1000 genomes]
rs12412655	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12413395	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12413979	1.00[EUR][1000 genomes]
rs12414524	1.00[EUR][1000 genomes]
rs12414810	1.00[EUR][1000 genomes]
rs12416023	1.00[EUR][1000 genomes]
rs1469894	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155417	1.00[EUR][1000 genomes]
rs17155440	1.00[EUR][1000 genomes]
rs17155445	1.00[EUR][1000 genomes]
rs17155599	1.00[EUR][1000 genomes]
rs17155606	1.00[EUR][1000 genomes]
rs17155619	1.00[EUR][1000 genomes]
rs17155848	1.00[EUR][1000 genomes]
rs17155973	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155977	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17156170	0.95[GIH][hapmap]
rs1998500	1.00[EUR][1000 genomes]
rs1998501	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2209065	0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2862118	0.94[JPT][hapmap];1.00[EUR][1000 genomes]
rs3912307	1.00[EUR][1000 genomes]
rs4948613	1.00[EUR][1000 genomes]
rs4948614	1.00[EUR][1000 genomes]
rs4948858	1.00[EUR][1000 genomes]
rs4948859	1.00[EUR][1000 genomes]
rs4948862	1.00[EUR][1000 genomes]
rs4948867	1.00[EUR][1000 genomes]
rs67379075	0.81[ASN][1000 genomes]
rs73286694	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs736724	0.95[GIH][hapmap]
rs746298	1.00[EUR][1000 genomes]
rs752642	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3519047	chr10:44807996-44811694	Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3519045	chr10:44808515-44810652	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3314752	chr10:44808524-44810666	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3314763	chr10:44808524-44810666	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44806600-44820800	Weak transcription	Right Atrium	heart
2	chr10:44807200-44822200	Weak transcription	Left Ventricle	heart
3	chr10:44807600-44820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:44808000-44820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:44809200-44810800	Enhancers	Fetal Muscle Leg	muscle
6	chr10:44810000-44811200	Weak transcription	Fetal Thymus	thymus
7	chr10:44810600-44811400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:44810600-44811400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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