Variant report

Variant	rs62513112
Chromosome Location	chr8:39802422-39802423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10958572	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056477	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056699	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888361	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16888365	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16888382	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888441	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34137953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4090533	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4090534	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831608	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56055654	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57264762	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57283040	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59017358	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59564535	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60316762	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61020637	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267348	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62512637	0.85[EUR][1000 genomes]
rs62512640	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62512641	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62512645	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62513108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62513109	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513117	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62513119	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62513120	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62513780	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62513781	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474199	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39785600-39805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:39796600-39806200	Weak transcription	Small Intestine	intestine
3	chr8:39797800-39802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:39797800-39803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:39797800-39805800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:39797800-39808400	Weak transcription	Fetal Lung	lung
7	chr8:39797800-39808800	Weak transcription	Left Ventricle	heart
8	chr8:39798000-39805600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:39798200-39805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:39798800-39805400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:39800600-39803000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:39800800-39802600	Weak transcription	Lung	lung
13	chr8:39801200-39805800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:39801400-39803600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:39801600-39802800	Weak transcription	Hela-S3	cervix
16	chr8:39801600-39803000	Enhancers	K562	blood
17	chr8:39801600-39804400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:39801600-39805400	Weak transcription	Primary B cells from cord blood	blood
19	chr8:39801800-39802600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:39801800-39805400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:39801800-39805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:39801800-39805600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:39802000-39805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:39802200-39803400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:39802400-39803600	Enhancers	HUES48 Cell Line	embryonic stem cell

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