Variant report

Variant	rs57279493
Chromosome Location	chr4:104296056-104296057
allele	A/C
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:6)

rs_ID	r²[population]
rs11945097	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56228681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57200348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835327	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835330	1.00[EUR][1000 genomes]
rs73835333	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2757947	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759271	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3348747	chr4:104214627-104609795	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv879686	chr4:104260725-104335667	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv879687	chr4:104288620-104371785	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104283800-104296400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:104293600-104296800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:104294000-104296600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:104294000-104296800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:104294400-104298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:104295000-104296800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:104295200-104296800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:104295200-104296800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:104295200-104296800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:104295800-104296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:104295800-104297000	Enhancers	HUVEC	blood vessel
12	chr4:104296000-104296600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:104296000-104296600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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