Variant report

Variant	rs132274
Chromosome Location	chr22:29525126-29525127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs132275	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[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]
rs132277	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6006029	0.91[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs132274	GSTT1	cis	cerebellum	SCAN
rs132274	SUSD2	cis	parietal	SCAN
rs132274	IGLL1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
11	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:29514400-29532800	Weak transcription	Gastric	stomach
13	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
15	chr22:29516600-29531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29516800-29530800	Weak transcription	Aorta	Aorta
17	chr22:29517200-29546200	Strong transcription	Dnd41	blood
18	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29519400-29528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
21	chr22:29520000-29526800	Strong transcription	Fetal Stomach	stomach
22	chr22:29520000-29528400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:29521400-29526800	Strong transcription	Ovary	ovary
25	chr22:29521400-29530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:29521400-29533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr22:29522000-29533400	Weak transcription	Colonic Mucosa	Colon
28	chr22:29522200-29526400	Enhancers	Liver	Liver
29	chr22:29522400-29541600	Weak transcription	HMEC	breast
30	chr22:29522600-29525200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr22:29522600-29530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:29522600-29531000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:29522600-29531000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29522600-29532600	Weak transcription	Fetal Brain Male	brain
35	chr22:29522600-29532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr22:29522600-29532800	Weak transcription	Pancreas	Pancrea
37	chr22:29522600-29533200	Weak transcription	Right Ventricle	heart
38	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
39	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:29522800-29531400	Weak transcription	Brain Angular Gyrus	brain
41	chr22:29523000-29525400	Weak transcription	Fetal Lung	lung
42	chr22:29523000-29533400	Weak transcription	NHEK	skin
43	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:29523400-29525400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:29523400-29525400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr22:29523400-29527000	Strong transcription	Fetal Intestine Small	intestine
47	chr22:29523400-29529800	Weak transcription	HepG2	liver
48	chr22:29523400-29530800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:29523400-29532800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach

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