Variant report

Variant	rs7293181
Chromosome Location	chr22:31148612-31148613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31089544..31092653-chr22:31148540..31151696,3	MCF-7	breast:
2	chr22:31147020..31149382-chr22:31151081..31153329,2	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11912801	0.91[AFR][1000 genomes]
rs12158477	0.96[EUR][1000 genomes]
rs5997744	1.00[EUR][1000 genomes]
rs5997745	1.00[EUR][1000 genomes]
rs5997750	1.00[EUR][1000 genomes]
rs5997754	1.00[EUR][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	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
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
5	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31137600-31153000	Weak transcription	Gastric	stomach
8	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
12	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
13	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
14	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
15	chr22:31140400-31149000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:31145200-31149200	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31146200-31149800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31146200-31152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:31146400-31149800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:31148000-31150600	Enhancers	HSMM	muscle
21	chr22:31148200-31149000	Weak transcription	Placenta	Placenta
22	chr22:31148200-31149200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31148200-31149400	Weak transcription	Spleen	Spleen
24	chr22:31148200-31155800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31148600-31149800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31148600-31150800	Enhancers	Fetal Heart	heart
27	chr22:31148600-31151800	Enhancers	HSMMtube	muscle

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