Variant report

Variant	rs16938994
Chromosome Location	chr8:49780330-49780331
allele	G/T
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:16)

rs_ID	r²[population]
rs1561657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16939027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640569	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7464556	0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr8:49776800-49780600	Weak transcription	Fetal Stomach	stomach
2	chr8:49776800-49782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:49776800-49782400	Weak transcription	Fetal Brain Female	brain
4	chr8:49778000-49781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:49778400-49780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:49778400-49782400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:49778600-49780600	Weak transcription	NHEK	skin
8	chr8:49778600-49781800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:49779000-49781600	Weak transcription	Fetal Brain Male	brain
10	chr8:49779000-49782400	Weak transcription	Esophagus	oesophagus
11	chr8:49779200-49780400	Weak transcription	Fetal Lung	lung
12	chr8:49779200-49780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:49779200-49780600	Weak transcription	HMEC	breast
14	chr8:49779200-49781800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:49780200-49780800	Enhancers	Ovary	ovary
16	chr8:49780200-49782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:49780200-49782400	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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