Variant report

Variant	rs72707452
Chromosome Location	chr1:186108870-186108871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186106978..186109370-chr1:186114571..186117056,2	MCF-7	breast:
2	chr1:186058150..186059707-chr1:186108819..186111468,2	K562	blood:
3	chr1:186106791..186108903-chr1:186157720..186159238,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11576597	0.83[EUR][1000 genomes]
rs11581389	0.83[EUR][1000 genomes]
rs11584685	0.92[EUR][1000 genomes]
rs11586165	1.00[EUR][1000 genomes]
rs11803845	0.92[EUR][1000 genomes]
rs12067376	0.83[EUR][1000 genomes]
rs16825012	1.00[EUR][1000 genomes]
rs16825020	0.85[EUR][1000 genomes]
rs41317473	0.83[EUR][1000 genomes]
rs41317489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41317491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693069	0.92[EUR][1000 genomes]
rs6695626	1.00[EUR][1000 genomes]
rs72707448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707459	0.92[EUR][1000 genomes]
rs72707472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707476	1.00[EUR][1000 genomes]
rs72718888	0.83[EUR][1000 genomes]
rs72718900	0.83[EUR][1000 genomes]
rs72720904	1.00[EUR][1000 genomes]
rs72720910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518663	1.00[EUR][1000 genomes]
rs9661710	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186073000-186121400	Weak transcription	NH-A	brain
5	chr1:186075000-186113600	Weak transcription	Lung	lung
6	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:186100000-186113200	Weak transcription	Left Ventricle	heart
8	chr1:186100000-186113400	Weak transcription	Aorta	Aorta
9	chr1:186107200-186115000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:186107400-186114600	Weak transcription	Liver	Liver
11	chr1:186107600-186113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:186107800-186109600	Enhancers	Osteobl	bone
13	chr1:186108000-186109400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:186108000-186109800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:186108000-186109800	Enhancers	NHDF-Ad	bronchial
16	chr1:186108000-186115800	Weak transcription	Fetal Lung	lung
17	chr1:186108200-186109400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:186108400-186109800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:186108600-186109600	Enhancers	NHLF	lung
20	chr1:186108800-186109000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:186108800-186109000	Enhancers	Ovary	ovary
22	chr1:186108800-186109200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:186108800-186109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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