Variant report

Variant	rs4472023
Chromosome Location	chr3:111523410-111523411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111521862..111524115-chr3:111526095..111528698,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10934110	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11717092	0.96[CEU][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12637888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373041	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4513422	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4610200	0.96[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes]
rs4682063	0.90[EUR][1000 genomes]
rs6438015	0.96[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs6438018	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6772828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783431	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs6794180	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6809414	0.87[JPT][hapmap]
rs7620045	0.91[EUR][1000 genomes]
rs9288930	0.82[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs9814037	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes]
rs9816926	0.95[JPT][hapmap]
rs9817633	0.84[EUR][1000 genomes]
rs9817777	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9829968	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9871340	0.83[EUR][1000 genomes]
rs9876709	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9880495	0.89[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111509400-111525800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:111514600-111533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:111518800-111523600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:111519200-111526200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:111519200-111526400	Weak transcription	Pancreas	Pancrea
6	chr3:111520000-111525800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:111521000-111526400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:111521200-111531000	Weak transcription	Small Intestine	intestine
9	chr3:111521400-111527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:111521600-111523600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:111521800-111527000	Weak transcription	Fetal Kidney	kidney
12	chr3:111521800-111527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:111521800-111527800	Weak transcription	Stomach Mucosa	stomach
14	chr3:111522000-111528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:111522200-111526800	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:111522400-111526200	Weak transcription	Placenta	Placenta
17	chr3:111522400-111527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:111522400-111531400	Weak transcription	Fetal Lung	lung
19	chr3:111522600-111526400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:111522600-111527200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:111522800-111523600	Enhancers	A549	lung
22	chr3:111522800-111526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:111523000-111525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:111523000-111526200	Weak transcription	Liver	Liver
25	chr3:111523000-111526400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:111523000-111526600	Weak transcription	NHEK	skin
27	chr3:111523000-111526800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:111523000-111526800	Weak transcription	HSMM	muscle
29	chr3:111523000-111526800	Weak transcription	NHDF-Ad	bronchial
30	chr3:111523000-111526800	Weak transcription	Osteobl	bone
31	chr3:111523000-111527000	Weak transcription	HSMMtube	muscle
32	chr3:111523000-111527000	Weak transcription	NH-A	brain
33	chr3:111523000-111527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:111523000-111528200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:111523200-111526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:111523200-111526800	Weak transcription	HMEC	breast
37	chr3:111523200-111527800	Weak transcription	NHLF	lung
38	chr3:111523400-111526000	Weak transcription	Hela-S3	cervix
39	chr3:111523400-111526600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:111523400-111526600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:111523400-111526800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:111523400-111526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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