Variant report

Variant	rs12706646
Chromosome Location	chr7:124907368-124907369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11764907	0.82[EUR][1000 genomes]
rs13230117	0.89[EUR][1000 genomes]
rs34557803	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62477089	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7807074	0.89[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	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124905200-124908400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:124905800-124908600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:124906000-124908600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:124906200-124908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:124906400-124912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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