Variant report

Variant	rs12580907
Chromosome Location	chr12:122118947-122118948
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	chr12:122111338..122114231-chr12:122116440..122119005,2	K562	blood:
2	chr12:122115091..122119007-chr12:122123231..122126528,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834237	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835830	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12579896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642824	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918170	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135040	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299610	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122111600-122119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
6	chr12:122117000-122125800	Weak transcription	K562	blood
7	chr12:122117200-122123800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:122117200-122125000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:122117400-122120000	Weak transcription	Fetal Thymus	thymus
10	chr12:122117400-122123600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:122117600-122119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:122117600-122120800	Weak transcription	HepG2	liver
13	chr12:122117600-122124200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:122117600-122124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:122117800-122124200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:122117800-122124800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:122118000-122119800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:122118000-122124200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:122118000-122125000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:122118600-122124200	Weak transcription	Placenta	Placenta
21	chr12:122118800-122119800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:122118800-122124400	Weak transcription	Brain Hippocampus Middle	brain

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