Variant report

Variant	rs12030855
Chromosome Location	chr1:57653897-57653898
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10889032	0.83[EUR][1000 genomes]
rs11206995	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11206996	0.83[EUR][1000 genomes]
rs11206997	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.92[ASN][1000 genomes]
rs12031487	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs12040107	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12042042	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs17115278	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17115341	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1847537	0.86[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs495875	0.95[MEX][hapmap]
rs57319955	0.97[ASN][1000 genomes]
rs592652	0.83[EUR][1000 genomes]
rs932508	0.86[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs932509	0.84[CEU][hapmap];0.83[EUR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57647200-57655800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57652200-57655200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57653200-57654800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:57653600-57654200	Enhancers	NHDF-Ad	bronchial
6	chr1:57653600-57654400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	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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