Variant report

Variant	rs60293452
Chromosome Location	chr3:112488411-112488412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11918463	1.00[EUR][1000 genomes]
rs11919852	1.00[EUR][1000 genomes]
rs11923569	1.00[EUR][1000 genomes]
rs56874152	1.00[EUR][1000 genomes]
rs58317173	1.00[EUR][1000 genomes]
rs59235825	1.00[EUR][1000 genomes]
rs59242272	1.00[EUR][1000 genomes]
rs60556260	1.00[EUR][1000 genomes]
rs61735902	1.00[EUR][1000 genomes]
rs61738676	1.00[EUR][1000 genomes]
rs6780504	1.00[EUR][1000 genomes]
rs6780780	1.00[EUR][1000 genomes]
rs6787825	1.00[EUR][1000 genomes]
rs6799989	1.00[EUR][1000 genomes]
rs6805160	1.00[EUR][1000 genomes]
rs72942070	1.00[EUR][1000 genomes]
rs72948480	1.00[EUR][1000 genomes]
rs72948495	1.00[EUR][1000 genomes]
rs72950317	1.00[EUR][1000 genomes]
rs72950381	1.00[EUR][1000 genomes]
rs72950401	1.00[EUR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112480200-112488600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:112480800-112488800	Weak transcription	HUVEC	blood vessel
3	chr3:112484200-112489400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:112485800-112494400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:112486400-112488600	Weak transcription	K562	blood
6	chr3:112486400-112489000	Weak transcription	A549	lung
7	chr3:112486600-112488600	Weak transcription	Stomach Mucosa	stomach
8	chr3:112486600-112491200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:112486600-112492800	Weak transcription	Spleen	Spleen
10	chr3:112486600-112492800	Weak transcription	GM12878-XiMat	blood
11	chr3:112486600-112494000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:112486800-112490800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112487400-112492200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:112487600-112489400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:112487600-112490200	Enhancers	NHDF-Ad	bronchial
16	chr3:112488000-112489400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:112488000-112489400	Enhancers	HMEC	breast
18	chr3:112488000-112489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:112488000-112489600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:112488000-112489600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112488000-112490000	Enhancers	NHEK	skin
22	chr3:112488000-112490200	Enhancers	Osteobl	bone
23	chr3:112488000-112501200	Enhancers	NHLF	lung
24	chr3:112488200-112489200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:112488200-112489600	Enhancers	NH-A	brain
26	chr3:112488200-112490200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:112488400-112488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:112488400-112489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:112488400-112489600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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