Variant report

Variant	rs12312388
Chromosome Location	chr12:117568243-117568244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117567393..117570707-chr12:117571769..117574020,3	MCF-7	breast:
2	chr12:117566175..117568422-chr12:117574241..117576485,2	MCF-7	breast:
3	chr12:117560289..117562463-chr12:117565995..117568462,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10850770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068349	0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230542	1.00[EUR][1000 genomes]
rs16947317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
3	esv3415031	chr12:117562369-117568367	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117564200-117571800	Weak transcription	Fetal Brain Male	brain
4	chr12:117566400-117582200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:117566800-117568400	Weak transcription	Gastric	stomach
6	chr12:117566800-117582200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:117566800-117583400	Weak transcription	Fetal Kidney	kidney
8	chr12:117567400-117568400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:117567400-117568800	Enhancers	A549	lung
10	chr12:117567400-117568800	Enhancers	Hela-S3	cervix
11	chr12:117567400-117569000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:117567800-117568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:117567800-117568600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:117568000-117568400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:117568000-117568400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:117568000-117568600	Enhancers	HMEC	breast
17	chr12:117568000-117568600	Enhancers	NHEK	skin
18	chr12:117568000-117568800	Enhancers	Fetal Heart	heart
19	chr12:117568000-117568800	Enhancers	HepG2	liver
20	chr12:117568200-117568600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:117568200-117568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:117568200-117568600	Enhancers	Placenta	Placenta
23	chr12:117568200-117569400	Enhancers	Pancreas	Pancrea

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