Variant report

Variant	rs73089758
Chromosome Location	chr12:44447650-44447651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11182381	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56040109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56189744	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58729113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59110659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087638	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087652	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087657	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087678	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087690	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087697	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087699	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73089709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089717	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089749	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091731	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73091734	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs74084623	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74087905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44438400-44449000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44439200-44464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44445800-44448400	Enhancers	Hela-S3	cervix
4	chr12:44446400-44448000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44446400-44448200	Enhancers	Adipose Nuclei	Adipose
6	chr12:44446800-44447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:44446800-44448000	Enhancers	HMEC	breast
8	chr12:44446800-44448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:44446800-44448400	Enhancers	NHEK	skin
10	chr12:44447000-44448000	Enhancers	Aorta	Aorta
11	chr12:44447000-44448400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:44447000-44459800	Weak transcription	Gastric	stomach
13	chr12:44447200-44448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:44447200-44448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:44447400-44448000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:44447400-44448000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:44447400-44448200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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