Variant report

Variant	rs58431112
Chromosome Location	chr8:49051579-49051580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49044330..49046661-chr8:49050157..49052805,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11990401	0.82[AFR][1000 genomes]
rs11991972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114205	1.00[AMR][1000 genomes]
rs12114564	1.00[AMR][1000 genomes]
rs4304348	1.00[AMR][1000 genomes]
rs4546687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4609219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4637865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55770276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55956950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57688729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834756	1.00[AMR][1000 genomes]
rs58045776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58555026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59517761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61602855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678259	1.00[AMR][1000 genomes]
rs7465660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49044600-49051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:49050000-49052800	Weak transcription	Fetal Lung	lung
3	chr8:49050000-49053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:49050000-49053400	Weak transcription	NHEK	skin
5	chr8:49050000-49056400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:49050200-49051600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:49050200-49055800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:49051000-49052000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:49051200-49051800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:49051200-49051800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:49051200-49051800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:49051200-49053800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:49051400-49051600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:49051400-49051600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:49051400-49051800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:49051400-49051800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:49051400-49051800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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