Variant report

Variant	rs74086589
Chromosome Location	chr12:48331829-48331830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48321390..48323315-chr12:48331086..48332682,3	MCF-7	breast:
2	chr12:48212555..48214576-chr12:48330977..48333958,2	MCF-7	breast:
3	chr12:48330156..48331915-chr12:48335116..48337838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11168301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168322	0.96[AFR][1000 genomes]
rs11574003	1.00[AMR][1000 genomes]
rs12313409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314051	0.81[AFR][1000 genomes]
rs12318019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59128492	0.80[AFR][1000 genomes]
rs59608701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60757377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295130	0.81[AFR][1000 genomes]
rs73295132	0.81[AFR][1000 genomes]
rs73295134	0.81[AFR][1000 genomes]
rs73295162	1.00[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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48332200	Weak transcription	Left Ventricle	heart
3	chr12:48329400-48332200	Weak transcription	Small Intestine	intestine
4	chr12:48329400-48332400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:48329400-48332400	Weak transcription	Right Atrium	heart
6	chr12:48329400-48332400	Weak transcription	Right Ventricle	heart
7	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48329600-48332000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:48329800-48332200	Weak transcription	Placenta	Placenta
10	chr12:48329800-48332800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:48330000-48332400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:48331200-48332400	Enhancers	HSMM	muscle
13	chr12:48331200-48332600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:48331200-48333000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:48331200-48333800	Enhancers	Hela-S3	cervix
16	chr12:48331600-48332000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:48331600-48332000	Flanking Active TSS	HSMMtube	muscle
18	chr12:48331600-48332000	Enhancers	NHLF	lung
19	chr12:48331600-48332600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:48331600-48332600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:48331600-48332600	Enhancers	NHDF-Ad	bronchial
22	chr12:48331800-48332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:48331800-48332600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:48331800-48332600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:48331800-48332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48331800-48332800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:48331800-48333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:48331800-48334600	Enhancers	Duodenum Mucosa	Duodenum

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