Variant report

Variant	rs74072247
Chromosome Location	chr12:26095660-26095661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26088641..26091375-chr12:26093087..26096585,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55712088	1.00[AFR][1000 genomes]
rs74071346	1.00[AFR][1000 genomes]
rs74072225	1.00[AFR][1000 genomes]
rs74072231	1.00[AFR][1000 genomes]
rs74072233	1.00[AFR][1000 genomes]
rs74072263	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
7	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:26092800-26096200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:26092800-26109400	Weak transcription	Ovary	ovary
11	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:26093600-26096000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:26095000-26095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:26095000-26095800	Enhancers	NHDF-Ad	bronchial
15	chr12:26095200-26095800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:26095200-26096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:26095400-26095800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:26095400-26095800	Enhancers	Placenta	Placenta
19	chr12:26095400-26096200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:26095600-26095800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:26095600-26095800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:26095600-26095800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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