Variant report

Variant	rs72843245
Chromosome Location	chr2:134475710-134475711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134473702..134475846-chr2:134476635..134479114,2	MCF-7	breast:
2	chr2:134464016..134466489-chr2:134473562..134476020,2	MCF-7	breast:
3	chr2:134466669..134468289-chr2:134473564..134475862,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10496709	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464809	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12465737	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12466546	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12467346	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12472423	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475377	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1446748	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1446749	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1562349	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16828705	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16828728	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767728	0.88[ASN][1000 genomes]
rs17768541	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17819620	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1867894	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992783	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992784	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34163450	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35593895	0.94[ASN][1000 genomes]
rs4369917	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4369918	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4597586	0.81[AMR][1000 genomes]
rs55715603	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787899	0.94[ASN][1000 genomes]
rs55932202	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56111185	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56160327	0.94[ASN][1000 genomes]
rs56341649	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58457553	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706052	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72843241	0.87[ASN][1000 genomes]
rs72843247	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72843252	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72843260	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72843263	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72843280	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921087	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134468000-134477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134474600-134476800	Enhancers	NHEK	skin
3	chr2:134474600-134477000	Enhancers	NHDF-Ad	bronchial
4	chr2:134474800-134476400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:134474800-134477000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:134474800-134477400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:134474800-134478000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134474800-134478000	Enhancers	Osteobl	bone
9	chr2:134475000-134476200	Weak transcription	Lung	lung
10	chr2:134475000-134476600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:134475000-134478000	Enhancers	NH-A	brain
12	chr2:134475200-134476200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:134475200-134476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134475200-134476200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:134475200-134477200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:134475400-134475800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:134475400-134475800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:134475400-134477000	Enhancers	Brain Substantia Nigra	brain
19	chr2:134475600-134476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:134475600-134476800	Enhancers	Brain Anterior Caudate	brain
21	chr2:134475600-134476800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:134475600-134477000	Enhancers	Brain Angular Gyrus	brain

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