Variant report

Variant	rs1836011
Chromosome Location	chr19:40073958-40073959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:40073859-40074305	GM12878	blood:	n/a	n/a
2	BCLAF1	chr19:40073733-40074376	GM12878	blood:	n/a	n/a
3	MEF2A	chr19:40073826-40074388	GM12878	blood:	n/a	n/a
4	STAT5A	chr19:40073526-40074326	GM12878	blood:	n/a	chr19:40074201-40074209 chr19:40073650-40073662 chr19:40073629-40073641
5	RUNX3	chr19:40073505-40074364	GM12878	blood:	n/a	n/a
6	MTA3	chr19:40073414-40074409	GM12878	blood:	n/a	n/a
7	NFATC1	chr19:40073898-40074366	GM12878	blood:	n/a	n/a
8	FOXM1	chr19:40073884-40074331	GM12878	blood:	n/a	n/a
9	NFIC	chr19:40073948-40074348	GM12878	blood:	n/a	n/a
10	RUNX3	chr19:40073489-40074337	GM12878	blood:	n/a	n/a
11	ATF2	chr19:40073482-40074495	GM12878	blood:	n/a	n/a
12	IRF4	chr19:40073555-40074275	GM12878	blood:	n/a	n/a
13	BATF	chr19:40073529-40074339	GM12878	blood:	n/a	n/a
14	NFIC	chr19:40073588-40074473	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40065219..40068575-chr19:40071242..40074424,3	K562	blood:

Variant related genes	Relation type
ENSG00000269188	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12608773	0.80[EUR][1000 genomes]
rs12609985	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610751	0.90[CEU][hapmap]
rs12611125	0.95[CEU][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs12972285	0.80[EUR][1000 genomes]
rs12972675	0.80[EUR][1000 genomes]
rs17641650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17795475	0.90[CEU][hapmap];0.87[GIH][hapmap]
rs34126123	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34355544	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34856311	0.95[CEU][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap]
rs34885802	0.80[EUR][1000 genomes]
rs35038530	0.80[EUR][1000 genomes]
rs4608447	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803258	0.85[CEU][hapmap];0.91[GIH][hapmap]
rs67832846	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247184	0.81[EUR][1000 genomes]
rs7247218	0.81[EUR][1000 genomes]
rs7257553	0.80[EUR][1000 genomes]
rs7257904	0.81[EUR][1000 genomes]
rs7258348	0.81[EUR][1000 genomes]
rs7507648	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1836011	EID2B	cis	lymphoblastoid	seeQTL
rs1836011	MRPS12	cis	lymphoblastoid	seeQTL
rs1836011	EID2B	cis	brain	seeQTL
rs1836011	GSK3A	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40073600-40074200	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:40073800-40074000	Bivalent Enhancer	Fetal Brain Female	brain
3	chr19:40073800-40074400	Enhancers	GM12878-XiMat	blood

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