Variant report

Variant	rs17115882
Chromosome Location	chr1:57958048-57958049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493224	1.00[MEX][hapmap]
rs10493227	1.00[GIH][hapmap]
rs17115788	1.00[MEX][hapmap]
rs17115796	1.00[MEX][hapmap]
rs17115807	1.00[MEX][hapmap]
rs17115851	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17115853	1.00[AMR][1000 genomes]
rs17115854	1.00[AMR][1000 genomes]
rs17115862	0.88[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115863	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17115864	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs17115867	1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17115871	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691467	1.00[GIH][hapmap]
rs2793622	1.00[GIH][hapmap]
rs57951998	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59727725	0.99[ASN][1000 genomes]
rs61538926	1.00[AMR][1000 genomes]
rs72911217	1.00[EUR][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:11 , 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	chr1:57957200-57958600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:57957200-57958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:57957400-57958600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57957600-57958400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:57957600-57958800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:57957800-57958400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57957800-57958800	Enhancers	Fetal Brain Male	brain

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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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