Variant report

Variant	rs72944848
Chromosome Location	chr1:73116620-73116621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73115458..73117504-chr1:73118558..73120505,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10889967	0.83[AMR][1000 genomes]
rs10889969	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10889976	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10889981	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11209993	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11209997	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11209998	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210000	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210001	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210002	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210016	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210018	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210019	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210021	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11210022	0.86[AFR][1000 genomes]
rs11807168	0.82[AFR][1000 genomes]
rs12066284	0.80[AFR][1000 genomes]
rs12070137	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12072129	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12072443	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12072444	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12073769	0.81[AFR][1000 genomes]
rs12073811	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12076822	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12078724	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12086840	0.80[AFR][1000 genomes]
rs12087817	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12088885	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12092131	0.81[AFR][1000 genomes]
rs12092187	0.81[AFR][1000 genomes]
rs17093275	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17093299	0.82[AFR][1000 genomes]
rs28416453	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34236777	0.81[AFR][1000 genomes]
rs60276726	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61224710	0.86[AFR][1000 genomes]
rs6657668	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6690920	0.83[AFR][1000 genomes]
rs6695500	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72946915	0.81[AFR][1000 genomes]
rs7536612	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2763560	chr1:73077448-73122262	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv871181	chr1:73084221-73305593	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:73115000-73117200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:73115200-73117200	Enhancers	Fetal Lung	lung
3	chr1:73115200-73117800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:73115800-73117000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:73115800-73117000	Enhancers	NHDF-Ad	bronchial
6	chr1:73115800-73117200	Enhancers	Fetal Stomach	stomach
7	chr1:73116000-73117000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:73116200-73117200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:73116400-73117000	Enhancers	Brain Anterior Caudate	brain
10	chr1:73116400-73117000	Enhancers	Fetal Brain Male	brain
11	chr1:73116600-73117000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:73116600-73117000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:73116600-73117200	Enhancers	Brain Germinal Matrix	brain
14	chr1:73116600-73117200	Enhancers	Fetal Brain Female	brain

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