Variant report

Variant	rs17451053
Chromosome Location	chr22:29537124-29537125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12157998	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056416	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs17444498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523074	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007772	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33958791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920087	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946378	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612970	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020709	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157227	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713527	0.92[ASN][1000 genomes]
rs713728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878725	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17451053	DRG1	cis	parietal	SCAN
rs17451053	MMP11	cis	cerebellum	SCAN

Chromatin state (count:93 , 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	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:29517200-29546200	Strong transcription	Dnd41	blood
5	chr22:29522400-29541600	Weak transcription	HMEC	breast
6	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
8	chr22:29525800-29544400	Weak transcription	NHLF	lung
9	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
10	chr22:29526200-29547000	Weak transcription	K562	blood
11	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
12	chr22:29528000-29539000	Strong transcription	Ovary	ovary
13	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
15	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
20	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:29532800-29538600	Strong transcription	Left Ventricle	heart
24	chr22:29533000-29538000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
27	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
28	chr22:29533400-29538400	Strong transcription	Colonic Mucosa	Colon
29	chr22:29533400-29538800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr22:29533400-29539400	Strong transcription	Brain Anterior Caudate	brain
31	chr22:29533600-29538000	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:29533600-29538400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr22:29533800-29538000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:29533800-29539800	Strong transcription	Brain Germinal Matrix	brain
36	chr22:29533800-29543600	Strong transcription	Fetal Brain Female	brain
37	chr22:29534600-29540600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:29534800-29537200	Weak transcription	Right Ventricle	heart
39	chr22:29534800-29537400	Weak transcription	Pancreas	Pancrea
40	chr22:29534800-29538000	Weak transcription	NHDF-Ad	bronchial
41	chr22:29534800-29540400	Weak transcription	Gastric	stomach
42	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
43	chr22:29535400-29540600	Weak transcription	NHEK	skin
44	chr22:29535600-29537400	Genic enhancers	Fetal Lung	lung
45	chr22:29535600-29537400	Enhancers	HepG2	liver
46	chr22:29535600-29539400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:29535800-29537200	Strong transcription	Fetal Brain Male	brain
48	chr22:29535800-29538200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr22:29535800-29538600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr22:29535800-29538600	Strong transcription	Lung	lung

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