Variant report

Variant	rs2252914
Chromosome Location	chr8:11498879-11498880
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11472906..11474859-chr8:11497875..11500697,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

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[EUR][1000 genomes]
rs2127130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2169888	0.81[AFR][1000 genomes]
rs2244775	1.00[EUR][1000 genomes]
rs2252818	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2252906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	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[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11490800-11499200	Weak transcription	Left Ventricle	heart
2	chr8:11491000-11499600	Weak transcription	Right Ventricle	heart
3	chr8:11497800-11499000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11497800-11499200	Enhancers	Fetal Heart	heart
5	chr8:11498000-11499200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:11498200-11499200	Enhancers	Brain Germinal Matrix	brain
7	chr8:11498200-11499400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr8:11498200-11499600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:11498200-11499600	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:11498200-11499800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:11498200-11500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11498400-11499200	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:11498400-11499200	Enhancers	HepG2	liver
14	chr8:11498400-11499400	Enhancers	Gastric	stomach
15	chr8:11498400-11499600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr8:11498400-11499600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:11498400-11499600	Enhancers	Primary B cells from cord blood	blood
18	chr8:11498400-11499800	Enhancers	Ovary	ovary
19	chr8:11498400-11500600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr8:11498400-11500600	Enhancers	Stomach Mucosa	stomach
21	chr8:11498400-11502400	Enhancers	Pancreas	Pancrea
22	chr8:11498600-11499400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:11498600-11499800	Enhancers	Fetal Intestine Large	intestine
24	chr8:11498600-11500600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:11498600-11500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:11498600-11500800	Enhancers	Fetal Intestine Small	intestine
27	chr8:11498800-11499000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr8:11498800-11500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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