Variant report

Variant	rs57180514
Chromosome Location	chr12:39512190-39512191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61038488	0.84[AFR][1000 genomes]
rs73262456	0.83[AFR][1000 genomes]
rs73264520	0.92[AFR][1000 genomes]
rs73264539	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39511600-39515800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:39511600-39515800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:39511600-39516000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:39511600-39516000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:39511600-39516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:39511600-39516000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:39511600-39516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:39511600-39516200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:39511600-39516600	Weak transcription	H9 Cell Line	embryonic stem cell

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

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