Variant report

Variant	rs12075071
Chromosome Location	chr1:173616525-173616526
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	chr1:173613329..173616073-chr1:173616452..173618767,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10798282	0.81[CHB][hapmap]
rs10798295	0.85[ASW][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10912656	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10912660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912676	0.82[ASN][1000 genomes]
rs12057778	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12065988	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12067170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12092383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140760	0.81[CHB][hapmap]
rs12561820	0.95[CEU][hapmap]
rs4382766	0.81[CHB][hapmap]
rs4916358	0.81[CHB][hapmap]
rs4916362	0.81[CHB][hapmap]
rs57592568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674589	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6702835	0.86[CHB][hapmap]
rs727924	0.84[AMR][1000 genomes]
rs7314	0.86[CHB][hapmap];0.83[MEX][hapmap]
rs7365380	0.90[ASN][1000 genomes]
rs7513933	0.83[AMR][1000 genomes]
rs7540065	0.86[CHB][hapmap];0.83[MEX][hapmap]
rs7542910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552939	0.85[ASW][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.81[LWK][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9425718	0.81[CHB][hapmap]
rs969029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9803671	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12075071		cis	Lymphoblastoid	GTEx
rs12075071	CENPL	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173607400-173624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:173607800-173624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:173609000-173625000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:173611200-173619000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:173613600-173629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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