Variant report

Variant	rs73341003
Chromosome Location	chr12:57231885-57231886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57231833..57234361-chr12:57386932..57388503,2	MCF-7	breast:
2	chr12:57143341..57145088-chr12:57231516..57233756,2	K562	blood:
3	chr12:57226879..57229084-chr12:57231232..57233751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166856	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57173883	0.95[AFR][1000 genomes]
rs60396573	0.95[AFR][1000 genomes]
rs73338975	0.95[AFR][1000 genomes]
rs73338977	0.95[AFR][1000 genomes]
rs73338999	0.95[AFR][1000 genomes]
rs73341007	0.89[AFR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57227600-57234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:57229400-57232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:57229400-57233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:57229600-57234600	Enhancers	Fetal Lung	lung
5	chr12:57229800-57232000	Enhancers	Ovary	ovary
6	chr12:57230200-57234600	Enhancers	Liver	Liver
7	chr12:57230400-57232800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:57230600-57233000	Enhancers	Primary T cells from cord blood	blood
9	chr12:57231000-57232400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:57231000-57232400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:57231000-57232800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:57231000-57233600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:57231000-57235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:57231000-57235400	Enhancers	HSMM	muscle
15	chr12:57231400-57232600	Weak transcription	Osteobl	bone
16	chr12:57231400-57232800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:57231400-57234000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:57231600-57232000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:57231600-57232400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:57231600-57232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:57231600-57232600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:57231600-57234800	Weak transcription	Esophagus	oesophagus
23	chr12:57231800-57232200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57231800-57232200	Weak transcription	HSMMtube	muscle
25	chr12:57231800-57232600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:57231800-57232600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:57231800-57232800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:57231800-57232800	Weak transcription	NHEK	skin
29	chr12:57231800-57233600	Weak transcription	Brain Substantia Nigra	brain
30	chr12:57231800-57233600	Weak transcription	Lung	lung
31	chr12:57231800-57233600	Weak transcription	Spleen	Spleen
32	chr12:57231800-57233600	Weak transcription	K562	blood
33	chr12:57231800-57234600	Enhancers	Fetal Kidney	kidney
34	chr12:57231800-57234800	Weak transcription	Placenta	Placenta

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