Variant report

Variant	rs73419741
Chromosome Location	chr12:122651921-122651922
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11834745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56719421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57101087	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59150700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419743	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
2	chr12:122650600-122652400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:122651000-122652000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:122651000-122652000	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:122651000-122652200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:122651200-122652200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:122651200-122652400	Enhancers	Fetal Intestine Large	intestine
8	chr12:122651400-122652200	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr12:122651600-122652000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122651600-122652400	Enhancers	Fetal Intestine Small	intestine
11	chr12:122651800-122652000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr12:122651800-122652200	Enhancers	Liver	Liver

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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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