Variant report

Variant	rs73090874
Chromosome Location	chr12:26374615-26374616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10842693	0.93[ASN][1000 genomes]
rs12422262	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423472	0.94[ASN][1000 genomes]
rs12424240	0.94[ASN][1000 genomes]
rs12424263	0.84[ASN][1000 genomes]
rs2291140	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36034234	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4963653	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4963655	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963656	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4963972	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4963973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59085537	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61914487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765071	0.94[ASN][1000 genomes]
rs9214	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9850	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
3	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:26365000-26377400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:26366000-26379400	Weak transcription	Ovary	ovary
6	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
7	chr12:26367400-26379000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:26372200-26379200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:26372400-26375200	Weak transcription	Fetal Intestine Small	intestine
10	chr12:26372400-26378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:26373200-26377600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:26373200-26378600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:26373600-26379000	Weak transcription	HMEC	breast
14	chr12:26373800-26375200	Weak transcription	Psoas Muscle	Psoas
15	chr12:26373800-26379000	Weak transcription	Right Atrium	heart
16	chr12:26374200-26378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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