Variant report

Variant	rs13409784
Chromosome Location	chr2:73392069-73392070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73382124..73385567-chr2:73388571..73392185,4	K562	blood:
2	chr2:73390084..73392544-chr2:73461526..73463099,2	MCF-7	breast:
3	chr2:73390881..73393497-chr2:73402051..73404149,2	MCF-7	breast:
4	chr2:73218906..73222605-chr2:73389462..73392238,4	K562	blood:

Variant related genes	Relation type
ENSG00000135631	Chromatin interaction
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10048837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10195007	0.89[ASN][1000 genomes]
rs10195282	0.89[ASN][1000 genomes]
rs10198711	0.89[ASN][1000 genomes]
rs10199536	0.90[ASN][1000 genomes]
rs11888772	0.89[ASN][1000 genomes]
rs11893547	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11894720	0.90[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs13009208	0.89[ASN][1000 genomes]
rs13385938	0.89[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13404992	0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[ASN][1000 genomes]
rs13424035	0.89[ASN][1000 genomes]
rs17008829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17008862	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2043092	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28464603	0.89[ASN][1000 genomes]
rs28494567	0.89[ASN][1000 genomes]
rs3768636	0.89[ASN][1000 genomes]
rs3820701	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3980782	0.84[AFR][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs56276021	0.90[ASN][1000 genomes]
rs60913601	0.89[ASN][1000 genomes]
rs61534579	0.89[ASN][1000 genomes]
rs6757079	0.89[ASN][1000 genomes]
rs72809926	0.90[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13409784	MOBKL1B	cis	parietal	SCAN
rs13409784	CD207	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73384000-73402600	Weak transcription	Right Atrium	heart
2	chr2:73391000-73393000	Weak transcription	HUVEC	blood vessel

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