Variant report

Variant	rs2669442
Chromosome Location	chr8:105378926-105378927
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	chr8:105377401..105380256-chr8:105381107..105384450,3	K562	blood:
2	chr8:105378052..105380256-chr8:105382950..105385678,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10808389	0.91[ASN][1000 genomes]
rs12543989	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1317417	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1355692	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2334119	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458428	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2458429	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2514674	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2514675	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2669440	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2669443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853134	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2853135	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2853136	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2853138	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2853139	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2853140	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2853142	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2853144	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2853149	1.00[ASW][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2853166	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853177	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734787	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734788	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734789	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734790	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734791	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62510078	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62510079	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105374000-105379000	Weak transcription	Adipose Nuclei	Adipose
2	chr8:105374200-105379000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:105375000-105379200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:105375400-105379400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:105378000-105379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:105378000-105379200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:105378000-105379200	Enhancers	NH-A	brain
8	chr8:105378000-105379400	Enhancers	NHDF-Ad	bronchial
9	chr8:105378200-105379200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:105378200-105379400	Enhancers	Osteobl	bone
11	chr8:105378400-105379000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:105378400-105379400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:105378400-105379400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:105378400-105379400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:105378400-105379800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:105378600-105379000	Enhancers	NHLF	lung
17	chr8:105378600-105379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:105378600-105379400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:105378600-105381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:105378800-105379000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:105378800-105379200	Enhancers	HUVEC	blood vessel

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