Variant report

Variant	rs72642556
Chromosome Location	chr14:31740306-31740307
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:9)

rs_ID	r²[population]
rs11845699	0.81[ASN][1000 genomes]
rs11847084	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11847145	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1812760	1.00[EUR][1000 genomes]
rs2093615	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642553	0.99[ASN][1000 genomes]
rs72642554	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72642555	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493691	1.00[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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31735400-31743200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:31735400-31743400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31735600-31743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:31735800-31740400	Weak transcription	HMEC	breast
5	chr14:31738800-31741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:31739200-31742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:31739200-31743200	Weak transcription	Osteobl	bone
8	chr14:31739600-31742600	Weak transcription	NHDF-Ad	bronchial
9	chr14:31739800-31742600	Weak transcription	HUVEC	blood vessel
10	chr14:31740000-31740800	Weak transcription	HepG2	liver
11	chr14:31740000-31741200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:31740000-31741800	Weak transcription	Liver	Liver
13	chr14:31740000-31741800	Weak transcription	Stomach Mucosa	stomach
14	chr14:31740000-31743200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31740000-31746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:31740000-31746200	Weak transcription	Esophagus	oesophagus

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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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