Variant report

Variant	rs4731240
Chromosome Location	chr7:124902881-124902882
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10279503	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11768552	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12530620	0.81[EUR][1000 genomes]
rs12534822	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13226465	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427579	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1427586	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17329822	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17388970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003139	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34593234	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6948143	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6957121	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6961484	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967665	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969306	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810705	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs952001	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs952002	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024270	chr7:124900057-124945551	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124900000-124904800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:124901200-124904400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:124901200-124904800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:124901200-124906400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124901600-124903800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:124901600-124904800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:124901600-124905000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:124901800-124904800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:124902200-124903600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:124902200-124904800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:124902400-124904800	Active TSS	HUES6 Cell Line	embryonic stem cell

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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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