Variant report

Variant	rs715422
Chromosome Location	chr1:192800640-192800641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489514	1.00[ASN][1000 genomes]
rs10921281	0.94[EUR][1000 genomes]
rs12076933	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087043	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091901	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231819	1.00[ASN][1000 genomes]
rs1625786	1.00[ASN][1000 genomes]
rs16834887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834924	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834941	1.00[EUR][1000 genomes]
rs16834945	0.88[EUR][1000 genomes]
rs1770915	1.00[ASN][1000 genomes]
rs1770918	1.00[ASN][1000 genomes]
rs1775687	1.00[ASN][1000 genomes]
rs1775688	1.00[ASN][1000 genomes]
rs1775689	1.00[ASN][1000 genomes]
rs1775690	1.00[ASN][1000 genomes]
rs1775691	1.00[ASN][1000 genomes]
rs1775693	1.00[ASN][1000 genomes]
rs2153083	1.00[ASN][1000 genomes]
rs60641679	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61394494	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660343	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661981	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700848	1.00[EUR][1000 genomes]
rs7514204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523033	1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530747	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542329	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546971	0.87[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192781400-192803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:192795400-192809000	Weak transcription	Placenta	Placenta
3	chr1:192796200-192803400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:192796200-192807000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:192796600-192803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:192796600-192803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:192796800-192802800	Weak transcription	HMEC	breast
8	chr1:192797400-192801400	Weak transcription	Hela-S3	cervix
9	chr1:192797400-192801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:192797400-192804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:192799600-192801200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:192799800-192801200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:192800200-192800800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:192800200-192801000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:192800200-192801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:192800200-192804600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:192800400-192800800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:192800400-192801000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:192800400-192801000	Enhancers	NH-A	brain
20	chr1:192800400-192801400	Enhancers	Osteobl	bone
21	chr1:192800400-192801800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:192800400-192805000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:192800600-192805000	Enhancers	NHEK	skin

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