Variant report

Variant	rs3920757
Chromosome Location	chr13:54807475-54807476
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1413883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576147	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs57859453	1.00[EUR][1000 genomes]
rs61570102	1.00[EUR][1000 genomes]
rs9316704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs933101	0.86[JPT][hapmap]
rs9596918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1051063	chr13:54777487-54997866	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv541778	chr13:54777487-54997866	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1046376	chr13:54785036-54827801	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2763024	chr13:54786785-54822165	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv518338	chr13:54788842-54812498	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv818962	chr13:54788842-54812498	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	esv3693144	chr13:54788842-54816326	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	lncRNA	n/a	inside rSNPs	n/a
10	nsv471132	chr13:54788842-54885744	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54801400-54808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54801400-54821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:54803200-54815400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:54807000-54807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:54807200-54821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:54807400-54807600	Enhancers	HUES48 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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