Variant report

Variant	rs7290980
Chromosome Location	chr22:31092425-31092426
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30820440..30822751-chr22:31090157..31092444,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11912792	1.00[ASN][1000 genomes]
rs13053290	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053933	1.00[ASN][1000 genomes]
rs13055490	1.00[ASN][1000 genomes]
rs13055538	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056984	1.00[ASN][1000 genomes]
rs13433567	1.00[ASN][1000 genomes]
rs136378	1.00[ASN][1000 genomes]
rs136381	1.00[ASN][1000 genomes]
rs136382	1.00[ASN][1000 genomes]
rs136385	1.00[ASN][1000 genomes]
rs136390	1.00[ASN][1000 genomes]
rs28360580	1.00[ASN][1000 genomes]
rs28672875	1.00[ASN][1000 genomes]
rs34360174	1.00[ASN][1000 genomes]
rs34779325	1.00[ASN][1000 genomes]
rs34961431	1.00[ASN][1000 genomes]
rs35137429	1.00[ASN][1000 genomes]
rs35384996	1.00[ASN][1000 genomes]
rs5994332	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7288635	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740234	1.00[CHD][hapmap]
rs757874	1.00[CHD][hapmap]
rs9621096	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7290980	CTA-963H5.5	cis	Esophagus Mucosa	GTEx
rs7290980	THOC5	cis	parietal	SCAN
rs7290980	DUSP18	cis	multi-tissue	Pritchard
rs7290980	FBXO7	cis	cerebellum	SCAN
rs7290980	DUSP18	Cis_1M	lymphoblastoid	RTeQTL
rs7290980	CTA-963H5.5	cis	Whole Blood	GTEx
rs7290980	DUSP18	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31091400-31092600	Flanking Active TSS	Brain Hippocampus Middle	brain
2	chr22:31091400-31092600	Flanking Active TSS	NHDF-Ad	bronchial
3	chr22:31091400-31093000	Weak transcription	K562	blood
4	chr22:31091400-31094800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:31091600-31092600	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr22:31091600-31092600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr22:31091600-31092600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:31091600-31092600	Enhancers	Fetal Heart	heart
9	chr22:31091600-31097800	Weak transcription	NHLF	lung
10	chr22:31091800-31093800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:31091800-31102000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:31092000-31092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:31092000-31092600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:31092000-31092600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr22:31092000-31093200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:31092000-31093800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:31092000-31093800	Weak transcription	Lung	lung
18	chr22:31092000-31101000	Weak transcription	Gastric	stomach
19	chr22:31092200-31092600	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr22:31092200-31093800	Weak transcription	Pancreas	Pancrea
21	chr22:31092200-31094800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31092200-31098000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:31092200-31102200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:31092200-31111000	Weak transcription	Fetal Intestine Small	intestine
25	chr22:31092400-31092600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31092400-31092600	Flanking Active TSS	Fetal Brain Female	brain
27	chr22:31092400-31092800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31092400-31093000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:31092400-31093000	Active TSS	Brain Cingulate Gyrus	brain
30	chr22:31092400-31093000	Active TSS	Brain Substantia Nigra	brain
31	chr22:31092400-31094200	Enhancers	Fetal Brain Male	brain
32	chr22:31092400-31101800	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:31092400-31101800	Weak transcription	Spleen	Spleen

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