Variant report

Variant	rs58467083
Chromosome Location	chr8:11535642-11535643
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11527400..11529595-chr8:11534511..11536645,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[EUR][1000 genomes]
rs10106250	1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2244775	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[EUR][1000 genomes]
rs28505660	1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73207234	1.00[AMR][1000 genomes]
rs73207238	1.00[AMR][1000 genomes]
rs73207250	1.00[AMR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	1.00[EUR][1000 genomes]
rs73545784	1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	1.00[EUR][1000 genomes]
rs8191543	1.00[EUR][1000 genomes]
rs8191573	1.00[EUR][1000 genomes]
rs8191669	1.00[EUR][1000 genomes]
rs8191682	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr8:11528800-11547200	Weak transcription	Pancreas	Pancrea
2	chr8:11533400-11536000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:11534000-11538600	Bivalent/Poised TSS	Fetal Stomach	stomach
4	chr8:11534200-11538000	Active TSS	Right Ventricle	heart
5	chr8:11534400-11536600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr8:11534400-11539400	Active TSS	Left Ventricle	heart
7	chr8:11534400-11539600	Active TSS	Fetal Heart	heart
8	chr8:11534400-11539600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr8:11534400-11541200	Active TSS	Right Atrium	heart
10	chr8:11534600-11536000	Active TSS	Gastric	stomach
11	chr8:11535200-11535800	Active TSS	Stomach Mucosa	stomach
12	chr8:11535200-11537200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:11535400-11535800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:11535400-11535800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr8:11535400-11540600	Active TSS	Ovary	ovary
16	chr8:11535600-11535800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:11535600-11541400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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