Variant report

Variant	rs12484974
Chromosome Location	chr22:31436494-31436495
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	chr22:31421824..31424630-chr22:31434408..31437079,3	K562	blood:
2	chr22:31430301..31432681-chr22:31434506..31436861,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003480	0.89[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs1005252	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs1017065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854601	0.82[YRI][hapmap]
rs12484162	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2074578	0.83[ASW][hapmap];0.92[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap]
rs2240175	0.82[YRI][hapmap]
rs2240177	0.89[YRI][hapmap]
rs2240179	0.89[YRI][hapmap]
rs2240180	0.82[YRI][hapmap]
rs2240182	0.83[ASW][hapmap];0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap]
rs2240183	0.89[YRI][hapmap]
rs2285918	0.92[CEU][hapmap];0.89[YRI][hapmap]
rs28360515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747151	0.89[YRI][hapmap]
rs3788426	0.89[YRI][hapmap]
rs3804085	0.86[YRI][hapmap]
rs4820916	0.89[YRI][hapmap]
rs5749186	0.88[CEU][hapmap];0.86[YRI][hapmap]
rs5753369	0.82[YRI][hapmap]
rs5753394	0.82[YRI][hapmap]
rs5753398	0.89[CEU][hapmap];0.89[YRI][hapmap]
rs5753407	0.89[YRI][hapmap]
rs5753408	0.89[YRI][hapmap]
rs5753410	0.89[YRI][hapmap]
rs5997830	0.89[YRI][hapmap]
rs5997838	0.89[YRI][hapmap]
rs5997846	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997847	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997852	0.82[EUR][1000 genomes]
rs6518731	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7284767	0.89[YRI][hapmap]
rs7291361	0.93[YRI][hapmap]
rs737924	0.89[YRI][hapmap]
rs739896	0.86[YRI][hapmap]
rs8135974	0.89[YRI][hapmap]
rs9609183	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12484974	FBXO7	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
2	chr22:31432600-31436800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31433000-31440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31433000-31440200	Weak transcription	Right Atrium	heart
5	chr22:31433200-31436600	Enhancers	Fetal Muscle Leg	muscle
6	chr22:31433400-31440200	Weak transcription	Lung	lung
7	chr22:31433600-31436600	Enhancers	Rectal Smooth Muscle	rectum
8	chr22:31433600-31437000	Enhancers	Colon Smooth Muscle	Colon
9	chr22:31433600-31440200	Weak transcription	Fetal Intestine Large	intestine
10	chr22:31433600-31441400	Weak transcription	Spleen	Spleen
11	chr22:31433600-31442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:31433600-31442600	Weak transcription	HSMM	muscle
13	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31434200-31436600	Enhancers	Ovary	ovary
15	chr22:31434600-31440200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:31435200-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:31435800-31437800	Enhancers	HepG2	liver
18	chr22:31435800-31440200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:31435800-31440400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:31436000-31437600	Enhancers	Stomach Smooth Muscle	stomach
21	chr22:31436000-31440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:31436000-31440200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:31436000-31440200	Weak transcription	Left Ventricle	heart
24	chr22:31436000-31440200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:31436000-31440200	Weak transcription	Osteobl	bone
26	chr22:31436000-31441400	Weak transcription	Colonic Mucosa	Colon
27	chr22:31436000-31441800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:31436000-31442200	Weak transcription	Placenta	Placenta
29	chr22:31436200-31440400	Weak transcription	NHDF-Ad	bronchial
30	chr22:31436200-31440400	Weak transcription	NHLF	lung

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