Variant report

Variant	rs6428138
Chromosome Location	chr1:192801467-192801468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2057043	0.89[AMR][1000 genomes]
rs60733376	0.89[AMR][1000 genomes]
rs6661721	0.89[AMR][1000 genomes]
rs6662006	0.89[AMR][1000 genomes]
rs6677263	0.87[AFR][1000 genomes]
rs73064109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534357	1.00[AMR][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:20 , 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	chr1:192797400-192801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:192797400-192804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:192800200-192804600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:192800400-192801800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:192800400-192805000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:192800600-192805000	Enhancers	NHEK	skin
14	chr1:192800800-192807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:192801000-192803800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:192801000-192807000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:192801200-192802200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:192801200-192804000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:192801200-192807000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:192801400-192802200	Enhancers	Hela-S3	cervix

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