Variant report

Variant	rs57757358
Chromosome Location	chr2:178518495-178518496
allele	C/T
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:9)

rs_ID	r²[population]
rs10165396	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893349	1.00[AFR][1000 genomes]
rs13409520	0.81[AFR][1000 genomes]
rs57474263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708869	1.00[AMR][1000 genomes]
rs73977691	0.81[AFR][1000 genomes]
rs7573755	0.82[AFR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178515200-178519000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:178516000-178518600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:178516000-178518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:178516000-178518800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:178516200-178518600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:178516200-178518600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:178516400-178518600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:178517000-178524400	Weak transcription	Fetal Kidney	kidney
9	chr2:178517200-178518600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:178517200-178530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:178517400-178518600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:178517400-178524200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178517800-178518600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr2:178518000-178518600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:178518200-178518600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr2:178518400-178518600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr2:178518400-178518600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:178518400-178518600	Enhancers	iPS DF 6.9 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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