Variant report

Variant	rs2691466
Chromosome Location	chr1:57957657-57957658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10493222	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs10889046	0.84[CEU][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs11207039	0.90[CEU][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs11207043	0.88[EUR][1000 genomes]
rs1334238	0.86[CEU][hapmap]
rs2805883	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:57955200-57972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57955600-57958200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:57955800-57958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:57955800-57958200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:57956000-57957800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:57956200-57957800	Weak transcription	NHDF-Ad	bronchial
7	chr1:57957200-57958600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:57957200-57958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:57957400-57958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57957600-57957800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:57957600-57957800	Enhancers	Hela-S3	cervix
12	chr1:57957600-57958400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:57957600-57958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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