Variant report

Variant	rs1480044
Chromosome Location	chr12:26393703-26393704
allele	A/C
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11048441	0.81[EUR][1000 genomes]
rs12311177	0.85[JPT][hapmap]
rs1355734	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1480040	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1480045	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533249	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1913234	0.81[EUR][1000 genomes]
rs2343875	0.81[EUR][1000 genomes]
rs4963659	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7295825	0.81[EUR][1000 genomes]
rs753616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955911	1.00[JPT][hapmap]
rs7976541	1.00[CEU][hapmap];0.81[EUR][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:43 , 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	chr12:26391200-26393800	Enhancers	HSMM	muscle
5	chr12:26391400-26393800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:26391400-26393800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr12:26391400-26393800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:26391800-26393800	Enhancers	Fetal Heart	heart
9	chr12:26391800-26394000	Enhancers	Right Ventricle	heart
10	chr12:26391800-26394800	Enhancers	Stomach Mucosa	stomach
11	chr12:26392000-26393800	Enhancers	HepG2	liver
12	chr12:26392200-26393800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:26392200-26396400	Enhancers	Fetal Intestine Small	intestine
14	chr12:26392400-26393800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:26392400-26393800	Enhancers	NH-A	brain
16	chr12:26392400-26394000	Enhancers	Fetal Intestine Large	intestine
17	chr12:26392600-26393800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:26392600-26394200	Enhancers	Brain Substantia Nigra	brain
19	chr12:26392600-26396200	Weak transcription	Right Atrium	heart
20	chr12:26392800-26393800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:26392800-26394000	Enhancers	Brain Anterior Caudate	brain
22	chr12:26392800-26394000	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:26392800-26394000	Enhancers	Brain Hippocampus Middle	brain
24	chr12:26392800-26394000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr12:26393000-26396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:26393000-26398000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:26393000-26400200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:26393000-26400400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:26393200-26393800	Enhancers	A549	lung
30	chr12:26393200-26394200	Weak transcription	Hela-S3	cervix
31	chr12:26393400-26393800	Enhancers	Colonic Mucosa	Colon
32	chr12:26393400-26393800	Enhancers	Esophagus	oesophagus
33	chr12:26393400-26393800	Enhancers	Left Ventricle	heart
34	chr12:26393400-26394000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr12:26393400-26394000	Enhancers	Pancreas	Pancrea
36	chr12:26393400-26394000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr12:26393400-26394000	Enhancers	Small Intestine	intestine
38	chr12:26393400-26395000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:26393600-26393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:26393600-26395800	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:26393600-26397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:26393600-26398000	Weak transcription	NHEK	skin
43	chr12:26393600-26398200	Weak transcription	Brain Angular Gyrus	brain

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