Variant report

Variant	rs132277
Chromosome Location	chr22:29532951-29532952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs132274	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]
rs132275	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132282	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6006029	0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.98[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
rs132277	GSTT1	cis	cerebellum	SCAN
rs132277	IGLL1	cis	cerebellum	SCAN
rs132277	SUSD2	cis	parietal	SCAN

Chromatin state (count:84 , 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	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:29517200-29546200	Strong transcription	Dnd41	blood
10	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
12	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:29521400-29533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:29522000-29533400	Weak transcription	Colonic Mucosa	Colon
15	chr22:29522400-29541600	Weak transcription	HMEC	breast
16	chr22:29522600-29533200	Weak transcription	Right Ventricle	heart
17	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
18	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:29523000-29533400	Weak transcription	NHEK	skin
20	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
22	chr22:29524400-29533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:29525800-29544400	Weak transcription	NHLF	lung
26	chr22:29526000-29533000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29526000-29533000	Weak transcription	HSMM	muscle
28	chr22:29526000-29535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
31	chr22:29526200-29547000	Weak transcription	K562	blood
32	chr22:29526400-29535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29526800-29533400	Weak transcription	NHDF-Ad	bronchial
34	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
35	chr22:29528000-29539000	Strong transcription	Ovary	ovary
36	chr22:29528200-29535600	Strong transcription	Fetal Lung	lung
37	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
39	chr22:29529800-29535800	Strong transcription	Fetal Thymus	thymus
40	chr22:29530000-29535600	Weak transcription	HepG2	liver
41	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29530400-29535800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
44	chr22:29531000-29536200	Weak transcription	Fetal Kidney	kidney
45	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:29531200-29533200	Weak transcription	Placenta	Placenta
48	chr22:29531200-29533400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
50	chr22:29531600-29533000	Weak transcription	Fetal Intestine Large	intestine

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