Variant report

Variant	rs4820899
Chromosome Location	chr22:31130537-31130538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31124952..31127381-chr22:31127811..31130663,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11913875	0.81[ASN][1000 genomes]
rs12483846	0.86[ASN][1000 genomes]
rs12484930	0.80[ASN][1000 genomes]
rs136316	0.90[ASN][1000 genomes]
rs136317	0.89[ASN][1000 genomes]
rs136337	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs136339	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs136340	0.90[ASN][1000 genomes]
rs136343	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs136344	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs136345	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs136346	0.92[ASN][1000 genomes]
rs136348	0.80[ASN][1000 genomes]
rs136351	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs136354	0.82[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs136355	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs136356	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs136380	0.87[ASN][1000 genomes]
rs136383	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs136388	0.82[ASN][1000 genomes]
rs4820025	0.86[ASN][1000 genomes]
rs4820897	0.91[ASN][1000 genomes]
rs55765123	0.86[ASN][1000 genomes]
rs5749156	0.86[ASN][1000 genomes]
rs5749157	0.88[ASN][1000 genomes]
rs5749161	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs5753281	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753285	0.87[ASN][1000 genomes]
rs5753287	0.85[ASN][1000 genomes]
rs5753288	0.81[ASN][1000 genomes]
rs5753290	0.85[ASN][1000 genomes]
rs5753292	0.90[ASN][1000 genomes]
rs5753294	0.89[ASN][1000 genomes]
rs5753295	0.89[ASN][1000 genomes]
rs5753297	0.89[ASN][1000 genomes]
rs5753298	0.82[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs5753299	0.94[ASN][1000 genomes]
rs5753300	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5994335	0.83[ASN][1000 genomes]
rs5997737	0.82[ASN][1000 genomes]
rs5997762	0.90[ASN][1000 genomes]
rs61537428	0.88[ASN][1000 genomes]
rs62235892	0.84[ASN][1000 genomes]
rs7292017	0.81[ASN][1000 genomes]
rs8184976	0.88[ASN][1000 genomes]
rs909705	0.84[ASN][1000 genomes]
rs926340	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4820899	FBXO7	cis	parietal	SCAN
rs4820899	DEPDC5	cis	cerebellum	SCAN
rs4820899	UQCR10	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
5	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
6	chr22:31123000-31137200	Weak transcription	Gastric	stomach
7	chr22:31123600-31131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:31125400-31131200	Weak transcription	Fetal Intestine Small	intestine
9	chr22:31126200-31130600	Enhancers	HUVEC	blood vessel
10	chr22:31126600-31136200	Weak transcription	K562	blood
11	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31129000-31136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:31129000-31137200	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:31129400-31134000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:31129400-31137400	Weak transcription	Brain Anterior Caudate	brain
20	chr22:31129600-31130600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31129600-31134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:31129800-31134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:31129800-31134200	Weak transcription	NHDF-Ad	bronchial
24	chr22:31129800-31137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:31130400-31136200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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