Variant report

Variant	rs12127347
Chromosome Location	chr1:75779404-75779405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75778138..75780699-chr1:75795597..75797835,2	K562	blood:
2	chr1:75770101..75774631-chr1:75777492..75782800,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493567	1.00[CHD][hapmap]
rs10493569	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10493572	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10493575	1.00[CHD][hapmap]
rs12122907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135977	1.00[CHB][hapmap]
rs12408827	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1249664	1.00[JPT][hapmap]
rs1249666	1.00[JPT][hapmap]
rs1249667	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1249668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1249669	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1262045	1.00[JPT][hapmap]
rs1405311	1.00[CHB][hapmap]
rs1505259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096643	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs17096647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17096776	1.00[JPT][hapmap]
rs17096782	1.00[JPT][hapmap]
rs17097953	1.00[JPT][hapmap]
rs17097955	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17584320	1.00[CHD][hapmap]
rs1857353	1.00[CHD][hapmap]
rs1876032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1876033	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040079	1.00[CHD][hapmap]
rs4540592	1.00[CHD][hapmap]
rs594470	1.00[CHB][hapmap]
rs622132	1.00[CHB][hapmap]
rs657221	1.00[CHB][hapmap]
rs665288	1.00[CHB][hapmap]
rs688513	1.00[CHB][hapmap]

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	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013952	chr1:75716654-75936048	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv535004	chr1:75716654-75936048	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12127347	RABGGTB	cis	cerebellum	SCAN
rs12127347	IFI44L	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75779000-75779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:75779400-75780400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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