Variant report

Variant	rs12168997
Chromosome Location	chr22:31223427-31223428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11089483	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11089485	1.00[CEU][hapmap]
rs12166075	1.00[EUR][1000 genomes]
rs12166445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166521	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12166797	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12169136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989230	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs34199962	1.00[AMR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619139	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9619140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	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	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr22:31219000-31224600	Weak transcription	HSMMtube	muscle
2	chr22:31219200-31224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31219200-31224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31219200-31225800	Weak transcription	Gastric	stomach
5	chr22:31220400-31224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:31221000-31224600	Weak transcription	Spleen	Spleen
7	chr22:31221600-31227200	Enhancers	Brain Angular Gyrus	brain
8	chr22:31221800-31226000	Weak transcription	Brain Anterior Caudate	brain
9	chr22:31222000-31223600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:31222000-31223800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:31222000-31226000	Weak transcription	Brain Substantia Nigra	brain
12	chr22:31222400-31223600	Enhancers	GM12878-XiMat	blood
13	chr22:31222400-31225600	Enhancers	A549	lung
14	chr22:31222400-31226000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:31222400-31226200	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:31222600-31224600	Genic enhancers	NHEK	skin
17	chr22:31222600-31225800	Weak transcription	Esophagus	oesophagus
18	chr22:31222600-31227000	Weak transcription	Pancreas	Pancrea
19	chr22:31223000-31224000	Genic enhancers	Hela-S3	cervix
20	chr22:31223200-31223600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:31223400-31224200	Weak transcription	HSMM	muscle
23	chr22:31223400-31225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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