Variant report

Variant	rs3133280
Chromosome Location	chr8:105476406-105476407
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105468587..105471783-chr8:105476013..105478836,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1849444	0.85[ASN][1000 genomes]
rs3133278	0.84[ASN][1000 genomes]
rs3133279	0.86[ASN][1000 genomes]
rs3133281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60012863	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105469600-105478600	Weak transcription	Pancreas	Pancrea
2	chr8:105473400-105478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105475200-105477600	Flanking Active TSS	Liver	Liver
4	chr8:105475600-105476600	Enhancers	HepG2	liver
5	chr8:105475600-105476800	Enhancers	Fetal Intestine Small	intestine
6	chr8:105475600-105477000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:105475600-105477600	Enhancers	Fetal Intestine Large	intestine
8	chr8:105475800-105476600	Enhancers	Fetal Lung	lung
9	chr8:105476000-105476600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:105476000-105476800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:105476000-105476800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:105476000-105477000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:105476000-105477000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:105476000-105477000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:105476200-105476600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:105476200-105476800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:105476200-105476800	Enhancers	Adipose Nuclei	Adipose
18	chr8:105476200-105476800	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:105476200-105477000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:105476200-105477000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:105476200-105477000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:105476200-105477000	Enhancers	K562	blood
23	chr8:105476400-105476600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:105476400-105476800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:105476400-105476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:105476400-105477200	Enhancers	HUES64 Cell Line	embryonic stem cell

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