Variant report

Variant	rs136354
Chromosome Location	chr22:31134390-31134391
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	chr22:31031534..31034276-chr22:31133621..31135722,2	K562	blood:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11913875	0.82[AMR][1000 genomes]
rs12483846	0.84[ASN][1000 genomes]
rs136292	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs136316	0.92[ASN][1000 genomes]
rs136317	0.90[ASN][1000 genomes]
rs136318	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136320	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136329	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs136337	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs136339	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs136340	0.92[ASN][1000 genomes]
rs136343	0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs136344	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs136345	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs136346	0.94[ASN][1000 genomes]
rs136348	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs136351	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136355	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136356	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs136370	1.00[YRI][hapmap]
rs136380	0.86[ASN][1000 genomes]
rs136383	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs136388	0.81[ASN][1000 genomes]
rs4820025	0.85[ASN][1000 genomes]
rs4820897	0.90[ASN][1000 genomes]
rs4820899	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55765123	0.84[ASN][1000 genomes]
rs5749156	0.84[ASN][1000 genomes]
rs5749157	0.87[ASN][1000 genomes]
rs5749161	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs5753281	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs5753285	0.85[ASN][1000 genomes]
rs5753287	0.83[ASN][1000 genomes]
rs5753290	0.84[ASN][1000 genomes]
rs5753292	0.88[ASN][1000 genomes]
rs5753294	0.87[ASN][1000 genomes]
rs5753295	0.87[ASN][1000 genomes]
rs5753297	0.87[ASN][1000 genomes]
rs5753298	0.82[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs5753299	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58467547	0.80[ASN][1000 genomes]
rs5994335	0.82[ASN][1000 genomes]
rs5997737	0.81[ASN][1000 genomes]
rs5997762	0.91[ASN][1000 genomes]
rs61537428	0.87[ASN][1000 genomes]
rs62235892	0.83[ASN][1000 genomes]
rs7292017	0.83[AMR][1000 genomes]
rs8184976	0.87[ASN][1000 genomes]
rs909705	0.83[ASN][1000 genomes]
rs926340	1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs136354	ZMAT5	cis	cerebellum	SCAN
rs136354	DEPDC5	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
3	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
4	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
5	chr22:31123000-31137200	Weak transcription	Gastric	stomach
6	chr22:31126600-31136200	Weak transcription	K562	blood
7	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:31129000-31136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31129000-31137200	Weak transcription	Brain Substantia Nigra	brain
10	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
11	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:31129400-31137400	Weak transcription	Brain Anterior Caudate	brain
15	chr22:31129800-31137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:31130400-31136200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:31130600-31135800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31131600-31137200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:31134000-31134400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:31134000-31135600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr22:31134000-31135600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31134000-31141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:31134200-31134600	Enhancers	NHDF-Ad	bronchial
24	chr22:31134200-31135200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:31134200-31135400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr22:31134200-31135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr22:31134200-31135400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31134200-31135600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr22:31134200-31136400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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