Variant report

Variant	rs814421
Chromosome Location	chr8:9940481-9940482
allele	G/T
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	GATA2	chr8:9940266-9940662	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9930550..9933030-chr8:9938731..9941412,2	K562	blood:

Variant related genes	Relation type
ENSG00000221320	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10098474	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[TSI][hapmap]
rs10104911	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs11249970	0.82[ASN][1000 genomes]
rs11990614	0.86[YRI][hapmap]
rs12545826	0.82[ASN][1000 genomes]
rs12550244	0.85[MEX][hapmap]
rs12550614	0.81[ASN][1000 genomes]
rs13261836	0.82[ASN][1000 genomes]
rs13279619	0.81[ASN][1000 genomes]
rs1484638	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1564808	0.81[MEX][hapmap]
rs17149332	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17151108	0.90[MEX][hapmap];0.97[MKK][hapmap];0.86[YRI][hapmap]
rs17151140	0.80[CEU][hapmap]
rs17151145	0.80[CEU][hapmap];0.90[MEX][hapmap];0.86[YRI][hapmap]
rs17151147	0.80[CEU][hapmap];0.90[MEX][hapmap]
rs17151193	0.84[CEU][hapmap]
rs1994223	0.89[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1994224	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2046398	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2409632	0.84[ASN][1000 genomes]
rs4294187	0.81[MEX][hapmap]
rs4840461	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs4840463	0.80[MEX][hapmap]
rs4840464	0.82[CEU][hapmap]
rs4841280	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981546	0.80[CHD][hapmap]
rs6988046	1.00[ASW][hapmap];0.91[CHB][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843906	0.80[CEU][hapmap];0.90[MEX][hapmap]
rs814422	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814424	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs814427	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs860068	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9329214	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963593	0.80[CEU][hapmap];0.81[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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs814421	PPP1R3B	cis	lymphoblastoid	seeQTL
rs814421	DEFB134	cis	cerebellum	SCAN
rs814421	MFHAS1	cis	cerebellum	SCAN
rs814421	CTSB	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
3	chr8:9929600-9947200	Weak transcription	Aorta	Aorta
4	chr8:9936200-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:9936600-9941600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:9938600-9942000	Enhancers	Fetal Brain Male	brain
7	chr8:9938800-9944800	Weak transcription	Primary B cells from cord blood	blood
8	chr8:9939200-9940600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:9939600-9940600	Enhancers	Liver	Liver
10	chr8:9939600-9942000	Enhancers	Fetal Brain Female	brain
11	chr8:9939800-9940600	Enhancers	HepG2	liver
12	chr8:9940000-9949400	Weak transcription	Spleen	Spleen
13	chr8:9940200-9940600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:9940200-9942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:9940200-9948600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:9940400-9941400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:9940400-9941600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:9940400-9941800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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