Variant report

Variant	rs12738322
Chromosome Location	chr1:222070166-222070167
allele	C/T
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:16)

rs_ID	r²[population]
rs10746414	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11118883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118890	1.00[ASN][1000 genomes]
rs11118891	1.00[ASN][1000 genomes]
rs11577023	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap]
rs12125690	1.00[CHB][hapmap]
rs12126771	1.00[ASN][1000 genomes]
rs12126886	1.00[ASN][1000 genomes]
rs12137702	1.00[ASN][1000 genomes]
rs12726661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731429	1.00[ASN][1000 genomes]
rs12748885	1.00[ASN][1000 genomes]
rs35192818	1.00[ASN][1000 genomes]
rs4129271	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56199684	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222064600-222073400	Weak transcription	Psoas Muscle	Psoas
3	chr1:222065000-222070200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:222065800-222070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:222065800-222070200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:222065800-222070400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:222065800-222070800	Weak transcription	NHEK	skin
8	chr1:222065800-222070800	Weak transcription	NHLF	lung
9	chr1:222066000-222070800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:222066200-222070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:222066400-222070200	Weak transcription	HMEC	breast
12	chr1:222066400-222070400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:222069800-222071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:222069800-222071200	Enhancers	NHDF-Ad	bronchial
15	chr1:222070000-222071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:222070000-222071200	Enhancers	Hela-S3	cervix
17	chr1:222070000-222071200	Enhancers	HSMM	muscle
18	chr1:222070000-222071600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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