Variant report

Variant	rs74075750
Chromosome Location	chr13:48282559-48282560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61973342	0.95[EUR][1000 genomes]
rs61973344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74073521	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74075745	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9562757	0.84[EUR][1000 genomes]
rs9567906	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832600	chr13:48183118-48341417	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv900066	chr13:48234112-48292845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1047818	chr13:48264618-48327155	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv1052701	chr13:48273757-48326134	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48281800-48282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:48282200-48282600	Flanking Active TSS	Hela-S3	cervix
3	chr13:48282200-48283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:48282200-48283400	Enhancers	Adipose Nuclei	Adipose
5	chr13:48282400-48282800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:48282400-48282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:48282400-48283000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:48282400-48283000	Enhancers	Osteobl	bone
9	chr13:48282400-48283400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:48282400-48283400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:48282400-48283400	Enhancers	NHEK	skin
12	chr13:48282400-48283800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:48282400-48283800	Enhancers	Placenta	Placenta

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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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