Variant report

Variant	rs12308782
Chromosome Location	chr12:49641110-49641111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49638300..49641624-chr12:49656914..49660164,4	MCF-7	breast:
2	chr12:49635417..49638399-chr12:49640493..49643287,2	K562	blood:
3	chr12:49637551..49640407-chr12:49640802..49643677,3	K562	blood:
4	chr12:49638137..49641269-chr12:49657288..49661762,6	K562	blood:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10047588	0.92[AFR][1000 genomes]
rs1109811	0.89[AFR][1000 genomes]
rs11168931	0.92[AFR][1000 genomes]
rs12296231	0.92[AFR][1000 genomes]
rs12296536	0.92[AFR][1000 genomes]
rs12303188	0.82[AFR][1000 genomes]
rs12304259	0.82[AFR][1000 genomes]
rs12309028	0.81[AFR][1000 genomes]
rs12314967	0.97[AFR][1000 genomes]
rs12322876	0.92[AFR][1000 genomes]
rs28758893	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
3	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
4	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:49639600-49648400	Weak transcription	A549	lung
6	chr12:49639600-49654000	Weak transcription	NHLF	lung
7	chr12:49639800-49645200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:49639800-49645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:49639800-49647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:49639800-49648200	Weak transcription	Ovary	ovary
11	chr12:49639800-49653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49639800-49653200	Weak transcription	NHDF-Ad	bronchial
13	chr12:49639800-49653200	Weak transcription	Osteobl	bone
14	chr12:49639800-49653400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:49640200-49647000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:49640200-49649000	Weak transcription	Hela-S3	cervix
17	chr12:49640200-49651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:49640200-49653000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:49640400-49641200	Flanking Active TSS	HepG2	liver
20	chr12:49640400-49645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:49640600-49644800	Weak transcription	K562	blood

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