Variant report

Variant	rs74088704
Chromosome Location	chr12:48349000-48349001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57330068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60130023	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086599	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086601	1.00[AFR][1000 genomes]
rs74086602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:48344400-48349000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:48346800-48349200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:48347000-48349400	Enhancers	Placenta	Placenta
4	chr12:48347200-48349000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:48347200-48349200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:48347200-48349200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:48347400-48349000	Enhancers	Colonic Mucosa	Colon
8	chr12:48347600-48349200	Enhancers	Fetal Intestine Large	intestine
9	chr12:48347600-48349200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:48347600-48349600	Enhancers	Fetal Lung	lung
11	chr12:48348000-48349200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:48348200-48351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:48348800-48349000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:48348800-48351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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Input of quick search could be:

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

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