Variant report

Variant	rs2100965
Chromosome Location	chr8:11501447-11501448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11250156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775743	0.84[ASN][1000 genomes]
rs11781607	0.84[ASN][1000 genomes]
rs11782574	0.84[ASN][1000 genomes]
rs13267835	0.84[ASN][1000 genomes]
rs13279932	0.83[ASN][1000 genomes]
rs17153574	0.89[ASN][1000 genomes]
rs2100964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7828656	0.84[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11498400-11502400	Enhancers	Pancreas	Pancrea
2	chr8:11499400-11501600	Weak transcription	Gastric	stomach
3	chr8:11500000-11502600	Enhancers	Primary B cells from cord blood	blood
4	chr8:11500000-11502800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11500400-11501600	Enhancers	Ovary	ovary
6	chr8:11500400-11501800	Enhancers	Right Ventricle	heart
7	chr8:11500400-11503400	Weak transcription	Right Atrium	heart
8	chr8:11500600-11501600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr8:11500600-11501600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr8:11500600-11501800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11500600-11502200	Bivalent Enhancer	HepG2	liver
12	chr8:11500600-11503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:11500600-11504200	Enhancers	Fetal Heart	heart
14	chr8:11500800-11502400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:11500800-11502400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:11500800-11503400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:11501000-11502600	Enhancers	Brain Germinal Matrix	brain
18	chr8:11501000-11503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:11501400-11501600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:11501400-11501600	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:11501400-11502000	Enhancers	Stomach Mucosa	stomach
22	chr8:11501400-11502400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:11501400-11504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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