Variant report

Variant	rs2003187
Chromosome Location	chr8:69077049-69077050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10105053	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13253979	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369165	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1434781	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1545065	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1865428	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1865429	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082701	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164168	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2217788	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007590	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819318	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7828065	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs874805	0.93[AMR][1000 genomes];0.91[EUR][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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:69067000-69082600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:69068600-69087200	Weak transcription	Lung	lung
7	chr8:69074000-69077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:69074400-69077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:69075000-69077200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:69075000-69077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:69075000-69130800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:69075200-69077200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:69075200-69077400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:69075200-69077400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:69075200-69081400	Weak transcription	Left Ventricle	heart
16	chr8:69075200-69109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:69075200-69113800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:69075400-69082200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:69075600-69077600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:69076000-69077200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:69076400-69079800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:69076400-69080600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:69076400-69085600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:69076400-69090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:69076400-69104000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:69076400-69104200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:69076600-69077400	Weak transcription	HUVEC	blood vessel

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