Variant report

Variant	rs439782
Chromosome Location	chr8:68568325-68568326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10089689	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10957393	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1351515	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17346597	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2046204	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2162146	0.81[AMR][1000 genomes]
rs2380435	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs387663	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs387671	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs427451	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs443841	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs447744	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs448193	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55746871	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6472327	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs655505	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7012026	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7813074	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7814911	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7837223	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7842446	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9643584	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv530518	chr8:68521420-68973114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68560800-68571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:68561000-68573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:68566800-68570200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:68567000-68568800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:68567000-68568800	Enhancers	Colon Smooth Muscle	Colon
6	chr8:68567400-68568400	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:68567600-68568400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:68568000-68568400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:68568000-68570400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:68568200-68568800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:68568200-68568800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:68568200-68570200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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