Variant report

Variant	rs12130043
Chromosome Location	chr1:196553583-196553584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12127468	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12141177	1.00[AMR][1000 genomes]
rs12142425	0.85[AFR][1000 genomes]
rs203684	1.00[MEX][hapmap]
rs35558539	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs35906110	0.85[AFR][1000 genomes]
rs434536	1.00[MEX][hapmap]
rs56078312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134330	1.00[AMR][1000 genomes]
rs74134347	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134368	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531235	1.00[GIH][hapmap]

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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 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	chr1:196527800-196559400	Weak transcription	Ovary	ovary
2	chr1:196547800-196556200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:196547800-196559000	Weak transcription	Liver	Liver
4	chr1:196548200-196557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:196548400-196557600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:196552800-196554000	Enhancers	A549	lung

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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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