Variant report

Variant	rs1480039
Chromosome Location	chr12:26422648-26422649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26419878..26422720-chr12:26427079..26429529,2	K562	blood:
2	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:
3	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123096	Chromatin interaction
ENSG00000123095	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505994	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12422927	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423059	0.98[ASN][1000 genomes]
rs12426603	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383115	0.86[EUR][1000 genomes]
rs16915737	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930376	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17467456	0.90[EUR][1000 genomes]
rs34623765	0.98[ASN][1000 genomes]
rs55965428	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73072448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072468	0.90[EUR][1000 genomes]
rs73072470	0.90[EUR][1000 genomes]
rs73072474	0.90[EUR][1000 genomes]
rs73072489	0.86[EUR][1000 genomes]
rs7955904	0.89[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9214	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26416800-26424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:26420400-26423800	Weak transcription	HMEC	breast
3	chr12:26420400-26423800	Weak transcription	NHEK	skin
4	chr12:26420400-26424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:26421000-26423600	Enhancers	Fetal Intestine Large	intestine
8	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
9	chr12:26421400-26422800	Enhancers	Stomach Mucosa	stomach
10	chr12:26421600-26423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:26421600-26423200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:26421600-26423200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:26421600-26424800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:26421600-26426000	Enhancers	HSMM	muscle
15	chr12:26421800-26423000	Enhancers	NHDF-Ad	bronchial
16	chr12:26421800-26423400	Enhancers	HSMMtube	muscle
17	chr12:26421800-26423800	Enhancers	Fetal Muscle Leg	muscle
18	chr12:26421800-26435800	Weak transcription	Gastric	stomach
19	chr12:26422000-26424200	Weak transcription	HepG2	liver
20	chr12:26422000-26424600	Weak transcription	Pancreas	Pancrea
21	chr12:26422200-26423600	Enhancers	Psoas Muscle	Psoas
22	chr12:26422400-26423000	Enhancers	Fetal Muscle Trunk	muscle
23	chr12:26422600-26422800	Enhancers	Osteobl	bone
24	chr12:26422600-26423000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:26422600-26423000	Enhancers	Right Atrium	heart
26	chr12:26422600-26423200	Enhancers	Adipose Nuclei	Adipose
27	chr12:26422600-26423400	Enhancers	Fetal Heart	heart
28	chr12:26422600-26423400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr12:26422600-26424600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:26422600-26427000	Weak transcription	Small Intestine	intestine
31	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle

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