Variant report

Variant	rs62137044
Chromosome Location	chr2:48651519-48651520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17037329	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17325537	0.88[EUR][1000 genomes]
rs17397442	0.87[EUR][1000 genomes]
rs60050318	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60059816	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62137020	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62137023	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62137026	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62137039	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67567718	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72820456	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72822209	0.87[EUR][1000 genomes]
rs7583717	0.87[AMR][1000 genomes];0.88[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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48647800-48651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:48648000-48651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:48648000-48655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:48648200-48651600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:48648400-48651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:48648400-48651600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:48648400-48652400	Weak transcription	K562	blood
8	chr2:48650400-48652800	Enhancers	Brain Hippocampus Middle	brain
9	chr2:48650600-48651600	Weak transcription	HMEC	breast
10	chr2:48651000-48653400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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