Variant report

Variant	rs72707459
Chromosome Location	chr1:186117483-186117484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186114622..186118208-chr1:186119499..186122583,5	MCF-7	breast:
2	chr1:186113643..186115541-chr1:186116096..186118117,2	MCF-7	breast:
3	chr1:186116473..186118652-chr1:186120353..186121946,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11584685	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586165	0.92[EUR][1000 genomes]
rs11803845	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825012	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35594835	0.89[ASN][1000 genomes]
rs41317489	0.92[EUR][1000 genomes]
rs41317491	0.92[EUR][1000 genomes]
rs6693069	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72707448	0.92[EUR][1000 genomes]
rs72707452	0.92[EUR][1000 genomes]
rs72707455	0.92[EUR][1000 genomes]
rs72707472	0.92[EUR][1000 genomes]
rs72707476	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72720904	0.92[EUR][1000 genomes]
rs72720910	0.92[EUR][1000 genomes]
rs72720911	0.92[EUR][1000 genomes]
rs7518663	0.92[EUR][1000 genomes]
rs7536998	1.00[ASN][1000 genomes]
rs9661710	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[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:26 , 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	chr1:186073000-186121400	Weak transcription	NH-A	brain
4	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:186109000-186121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:186109400-186121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:186109600-186121200	Weak transcription	Osteobl	bone
9	chr1:186109800-186121400	Weak transcription	NHDF-Ad	bronchial
10	chr1:186109800-186121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:186110000-186121200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:186112600-186122000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:186113800-186135800	Weak transcription	Ovary	ovary
15	chr1:186114000-186123200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:186114600-186120000	Strong transcription	Liver	Liver
17	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
18	chr1:186115000-186121200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:186115600-186121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:186116000-186121800	Weak transcription	Left Ventricle	heart
22	chr1:186116400-186122800	Weak transcription	Adipose Nuclei	Adipose
23	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
24	chr1:186116600-186120800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:186116600-186135400	Weak transcription	Lung	lung
26	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung

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