Variant report

Variant	rs12144607
Chromosome Location	chr1:171911882-171911883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171911072..171912968-chr1:171915867..171918622,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10914141	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123334	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125022	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133814	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134649	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12135615	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135871	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12137105	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137824	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12137825	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141726	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472925	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805807	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61805811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805816	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805845	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6673009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6684723	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6691703	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12144607	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171900000-171916200	Weak transcription	Lung	lung
2	chr1:171904800-171913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171906600-171923200	Weak transcription	Fetal Kidney	kidney
4	chr1:171907000-171923000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:171907200-171917600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:171908200-171913400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:171909200-171912000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:171909200-171912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:171909200-171912200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:171909200-171917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:171909400-171922400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:171909800-171914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:171909800-171917600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:171909800-171923200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:171910400-171913200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:171910600-171912400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:171910600-171916200	Weak transcription	Stomach Mucosa	stomach
18	chr1:171911800-171912800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:171911800-171913000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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