Variant report

Variant	rs215361
Chromosome Location	chr12:47739875-47739876
allele	C/T
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:9)

rs_ID	r²[population]
rs215339	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs215340	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs215341	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215344	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215345	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215346	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs215347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215349	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215359	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:47737600-47741600	Enhancers	Liver	Liver
4	chr12:47738200-47740200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:47738800-47740200	Weak transcription	Osteobl	bone
6	chr12:47739800-47740000	Enhancers	Pancreas	Pancrea
7	chr12:47739800-47740400	Enhancers	Fetal Intestine Large	intestine
8	chr12:47739800-47740400	Enhancers	Fetal Intestine Small	intestine

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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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