Variant report

Variant	rs4513422
Chromosome Location	chr3:111526419-111526420
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	chr3:111456141..111458585-chr3:111526075..111527610,2	MCF-7	breast:
2	chr3:111521862..111524115-chr3:111526095..111528698,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10934110	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717092	0.91[EUR][1000 genomes]
rs12637888	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4373041	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4472023	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4610200	0.93[EUR][1000 genomes]
rs4682063	0.90[EUR][1000 genomes]
rs6438015	0.85[EUR][1000 genomes]
rs6438018	0.91[EUR][1000 genomes]
rs6772828	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6772912	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6772930	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6783431	0.85[EUR][1000 genomes]
rs6794180	0.91[EUR][1000 genomes]
rs7620045	0.85[EUR][1000 genomes]
rs9814037	0.91[EUR][1000 genomes]
rs9817777	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9829968	0.91[EUR][1000 genomes]
rs9871340	0.83[EUR][1000 genomes]
rs9876709	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9880495	0.84[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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:111514600-111533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:111521200-111531000	Weak transcription	Small Intestine	intestine
3	chr3:111521400-111527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:111521800-111527000	Weak transcription	Fetal Kidney	kidney
5	chr3:111521800-111527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:111521800-111527800	Weak transcription	Stomach Mucosa	stomach
7	chr3:111522000-111528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:111522200-111526800	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:111522400-111527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:111522400-111531400	Weak transcription	Fetal Lung	lung
11	chr3:111522600-111527200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:111522800-111526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:111523000-111526600	Weak transcription	NHEK	skin
14	chr3:111523000-111526800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:111523000-111526800	Weak transcription	HSMM	muscle
16	chr3:111523000-111526800	Weak transcription	NHDF-Ad	bronchial
17	chr3:111523000-111526800	Weak transcription	Osteobl	bone
18	chr3:111523000-111527000	Weak transcription	HSMMtube	muscle
19	chr3:111523000-111527000	Weak transcription	NH-A	brain
20	chr3:111523000-111527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:111523000-111528200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:111523200-111526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:111523200-111526800	Weak transcription	HMEC	breast
24	chr3:111523200-111527800	Weak transcription	NHLF	lung
25	chr3:111523400-111526600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:111523400-111526600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:111523400-111526800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:111523400-111526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:111523600-111526600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:111525800-111526600	Enhancers	Fetal Intestine Large	intestine
31	chr3:111525800-111526600	Enhancers	A549	lung
32	chr3:111525800-111529000	Enhancers	Fetal Intestine Small	intestine
33	chr3:111526000-111531400	Enhancers	Hela-S3	cervix
34	chr3:111526200-111527200	Enhancers	Placenta	Placenta
35	chr3:111526200-111527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:111526200-111529000	Enhancers	Liver	Liver
37	chr3:111526400-111527200	Enhancers	Aorta	Aorta
38	chr3:111526400-111529000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:111526400-111529400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:111526400-111529400	Enhancers	Pancreas	Pancrea
41	chr3:111526400-111531000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:111526400-111531600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:111526400-111533000	Enhancers	Placenta Amnion	Placenta Amnion

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