Variant report

Variant	rs61831482
Chromosome Location	chr1:185689606-185689607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:
2	chr1:185687976..185689739-chr1:186121174..186123816,2	MCF-7	breast:
3	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
4	chr1:185689418..185690146-chr1:185782017..185782745,2	MCF-7	breast:
5	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11579889	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11583092	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11584252	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11587852	0.82[EUR][1000 genomes]
rs11589543	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1358871	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1484134	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1484135	0.84[EUR][1000 genomes]
rs1552281	0.93[EUR][1000 genomes]
rs16824390	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16824396	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17445778	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2004324	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34923020	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35425624	0.83[EUR][1000 genomes]
rs41519044	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4596837	0.83[EUR][1000 genomes]
rs55993167	0.84[EUR][1000 genomes]
rs56031313	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56238699	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57146145	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58708412	0.88[EUR][1000 genomes]
rs59197925	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59253277	0.83[EUR][1000 genomes]
rs59702468	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60074235	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60376365	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61831462	0.83[EUR][1000 genomes]
rs61831464	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831470	0.93[EUR][1000 genomes]
rs61831480	0.84[EUR][1000 genomes]
rs61831483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831484	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61831485	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61831486	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831502	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831503	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831504	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831505	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831521	0.90[EUR][1000 genomes]
rs6656530	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668606	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668607	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6692602	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72727759	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7534755	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7538168	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547022	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7554903	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs900775	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9286857	0.83[EUR][1000 genomes]
rs936723	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs992760	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs994970	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185683000-185702600	Weak transcription	Aorta	Aorta
2	chr1:185686800-185690400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:185687400-185690000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:185687600-185689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:185688400-185691200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:185688600-185690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:185688600-185690800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:185688800-185689800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:185688800-185689800	Enhancers	HMEC	breast
10	chr1:185688800-185689800	Weak transcription	Osteobl	bone
11	chr1:185688800-185690200	Enhancers	NHEK	skin
12	chr1:185688800-185691200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:185688800-185703000	Weak transcription	NH-A	brain
14	chr1:185689200-185690200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:185689600-185689800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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