Variant report

Variant	rs55965428
Chromosome Location	chr12:26393809-26393810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26393455..26396453-chr12:26399298..26401055,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505994	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12422927	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12423059	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424263	0.90[AMR][1000 genomes]
rs12426603	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1480039	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16915737	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16930376	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34623765	0.90[ASN][1000 genomes]
rs73072448	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7955904	0.81[ASN][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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26390200-26397200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:26390400-26394000	Enhancers	HMEC	breast
3	chr12:26390800-26394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:26391800-26394000	Enhancers	Right Ventricle	heart
5	chr12:26391800-26394800	Enhancers	Stomach Mucosa	stomach
6	chr12:26392200-26396400	Enhancers	Fetal Intestine Small	intestine
7	chr12:26392400-26394000	Enhancers	Fetal Intestine Large	intestine
8	chr12:26392600-26394200	Enhancers	Brain Substantia Nigra	brain
9	chr12:26392600-26396200	Weak transcription	Right Atrium	heart
10	chr12:26392800-26394000	Enhancers	Brain Anterior Caudate	brain
11	chr12:26392800-26394000	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:26392800-26394000	Enhancers	Brain Hippocampus Middle	brain
13	chr12:26392800-26394000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:26393000-26396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:26393000-26398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:26393000-26400200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:26393000-26400400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:26393200-26394200	Weak transcription	Hela-S3	cervix
19	chr12:26393400-26394000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:26393400-26394000	Enhancers	Pancreas	Pancrea
21	chr12:26393400-26394000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:26393400-26394000	Enhancers	Small Intestine	intestine
23	chr12:26393400-26395000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr12:26393600-26395800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:26393600-26397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:26393600-26398000	Weak transcription	NHEK	skin
27	chr12:26393600-26398200	Weak transcription	Brain Angular Gyrus	brain
28	chr12:26393800-26394000	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:26393800-26397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:26393800-26397800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:26393800-26398600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:26393800-26398800	Weak transcription	Colonic Mucosa	Colon

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