Variant report

Variant	rs12167410
Chromosome Location	chr22:31539044-31539045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31367419..31370310-chr22:31536791..31539101,2	MCF-7	breast:
2	chr22:31534039..31536501-chr22:31538813..31541013,2	K562	blood:
3	chr22:31537492..31539345-chr22:31541481..31543024,2	K562	blood:
4	chr22:31490963..31492744-chr22:31538317..31540744,2	MCF-7	breast:
5	chr22:31538424..31540248-chr22:31554782..31556431,2	MCF-7	breast:
6	chr22:31537984..31540671-chr22:31548834..31552374,3	K562	blood:
7	chr22:31518708..31521060-chr22:31538019..31540317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264141	Chromatin interaction
ENSG00000185133	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000138942	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12170790	1.00[AFR][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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
3	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:31537400-31540000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:31538200-31540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31538400-31539200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31538400-31539600	Enhancers	Left Ventricle	heart
8	chr22:31538600-31540400	Enhancers	NHEK	skin
9	chr22:31538800-31539600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:31538800-31539600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:31538800-31539600	Enhancers	Right Atrium	heart
12	chr22:31538800-31539800	Enhancers	Brain Anterior Caudate	brain
13	chr22:31538800-31539800	Enhancers	Brain Cingulate Gyrus	brain
14	chr22:31538800-31539800	Enhancers	Fetal Muscle Leg	muscle
15	chr22:31538800-31539800	Enhancers	Right Ventricle	heart
16	chr22:31538800-31539800	Enhancers	Spleen	Spleen
17	chr22:31538800-31540000	Enhancers	Brain Hippocampus Middle	brain
18	chr22:31538800-31540000	Enhancers	Brain Substantia Nigra	brain
19	chr22:31538800-31540000	Enhancers	Placenta	Placenta
20	chr22:31538800-31540000	Weak transcription	HMEC	breast
21	chr22:31539000-31539200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:31539000-31539600	Enhancers	Brain Angular Gyrus	brain
23	chr22:31539000-31540000	Enhancers	Fetal Muscle Trunk	muscle

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