Variant report

Variant	rs12300062
Chromosome Location	chr12:122922653-122922654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122905519..122907885-chr12:122922544..122925383,2	MCF-7	breast:
2	chr12:122908536..122910322-chr12:122920778..122923252,2	K562	blood:
3	chr12:122921855..122923371-chr12:122925015..122926567,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	1.00[AMR][1000 genomes]
rs7311062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122921400-122924200	Enhancers	Placenta	Placenta
2	chr12:122921600-122923000	Enhancers	Fetal Brain Male	brain
3	chr12:122921800-122922800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122921800-122922800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr12:122921800-122922800	Enhancers	Esophagus	oesophagus
6	chr12:122921800-122922800	Enhancers	Fetal Lung	lung
7	chr12:122921800-122922800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:122921800-122922800	Enhancers	Psoas Muscle	Psoas
9	chr12:122921800-122922800	Enhancers	HMEC	breast
10	chr12:122921800-122922800	Enhancers	HSMM	muscle
11	chr12:122921800-122922800	Enhancers	NHLF	lung
12	chr12:122922000-122922800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:122922000-122922800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:122922000-122922800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:122922000-122922800	Flanking Active TSS	NHDF-Ad	bronchial
16	chr12:122922000-122923400	Enhancers	A549	lung
17	chr12:122922000-122923800	Bivalent Enhancer	HepG2	liver
18	chr12:122922200-122922800	Flanking Active TSS	NHEK	skin
19	chr12:122922400-122922800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122922400-122922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:122922400-122922800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:122922400-122922800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:122922400-122922800	Enhancers	Fetal Brain Female	brain
24	chr12:122922400-122923200	Weak transcription	Hela-S3	cervix
25	chr12:122922600-122922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:122922600-122922800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122922600-122922800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:122922600-122922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122922600-122922800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:122922600-122922800	Enhancers	Adipose Nuclei	Adipose
31	chr12:122922600-122922800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:122922600-122922800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:122922600-122922800	Enhancers	Right Atrium	heart
34	chr12:122922600-122922800	Active TSS	Stomach Smooth Muscle	stomach
35	chr12:122922600-122922800	Enhancers	Osteobl	bone

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