Variant report

Variant	rs130458
Chromosome Location	chr22:32926132-32926133
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	22:32920308-32927723..22:33178968-33185617	Hela-S3	cervix:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:
3	22:32920308-32927723..22:33208968-33216036	H1-hESC	embryonic stem cell:	embryo
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
5	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000229673	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs130448	1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130449	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130453	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs130454	0.84[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2710373	0.85[JPT][hapmap]
rs5754135	0.85[JPT][hapmap]
rs5754141	0.85[JPT][hapmap]

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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:32916000-32927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:32920200-32928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:32923800-32926400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr22:32924200-32932200	Enhancers	Placenta	Placenta
11	chr22:32924400-32926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:32924400-32926200	Enhancers	Right Ventricle	heart
13	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
16	chr22:32924800-32926200	Enhancers	Lung	lung
17	chr22:32924800-32926400	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:32924800-32926400	Enhancers	Left Ventricle	heart
19	chr22:32924800-32926600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:32924800-32928000	Enhancers	Adipose Nuclei	Adipose
21	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
23	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
24	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
25	chr22:32925000-32926600	Enhancers	Right Atrium	heart
26	chr22:32925000-32927800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:32925200-32926200	Enhancers	Fetal Intestine Small	intestine
28	chr22:32925200-32926200	Enhancers	Pancreas	Pancrea
29	chr22:32925200-32926400	Enhancers	HSMMtube	muscle
30	chr22:32925200-32926600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr22:32925400-32926200	Enhancers	Brain Hippocampus Middle	brain
33	chr22:32925400-32926400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:32925400-32926400	Enhancers	Colon Smooth Muscle	Colon
35	chr22:32925400-32926400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr22:32925400-32926600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr22:32925400-32927200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:32925400-32927200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:32925400-32928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:32925400-32928000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:32925400-32928000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:32925400-32928000	Weak transcription	K562	blood
43	chr22:32925400-32928000	Weak transcription	NH-A	brain
44	chr22:32925600-32926200	Enhancers	Spleen	Spleen
45	chr22:32925600-32927200	Weak transcription	Osteobl	bone
46	chr22:32925600-32927400	Weak transcription	Fetal Thymus	thymus
47	chr22:32925600-32927400	Weak transcription	HSMM	muscle
48	chr22:32925600-32927400	Weak transcription	NHLF	lung
49	chr22:32925600-32928000	Weak transcription	Brain Angular Gyrus	brain
50	chr22:32925600-32928200	Enhancers	Hela-S3	cervix

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