Variant report

Variant	rs12124257
Chromosome Location	chr1:186631932-186631933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186631541..186633965-chr1:186639110..186642101,3	MCF-7	breast:
2	chr1:186575620..186577383-chr1:186631435..186633381,2	MCF-7	breast:
3	chr1:186631253..186633472-chr1:186644588..186647505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073756	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489400	1.00[EUR][1000 genomes]
rs10737268	1.00[EUR][1000 genomes]
rs10752972	1.00[EUR][1000 genomes]
rs10752975	1.00[EUR][1000 genomes]
rs10798058	1.00[EUR][1000 genomes]
rs12088741	1.00[EUR][1000 genomes]
rs12136874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12725481	1.00[EUR][1000 genomes]
rs12738146	1.00[EUR][1000 genomes]
rs1883272	1.00[EUR][1000 genomes]
rs1997673	1.00[EUR][1000 genomes]
rs2064131	1.00[EUR][1000 genomes]
rs2064132	1.00[EUR][1000 genomes]
rs2142817	1.00[EUR][1000 genomes]
rs2142818	1.00[EUR][1000 genomes]
rs2179225	1.00[EUR][1000 genomes]
rs2205952	1.00[EUR][1000 genomes]
rs2223328	1.00[EUR][1000 genomes]
rs2383532	0.95[EUR][1000 genomes]
rs2891253	1.00[EUR][1000 genomes]
rs2891254	1.00[EUR][1000 genomes]
rs3131553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3131554	1.00[ASW][hapmap]
rs3955272	1.00[EUR][1000 genomes]
rs4140563	1.00[EUR][1000 genomes]
rs4140564	1.00[EUR][1000 genomes]
rs4650702	1.00[EUR][1000 genomes]
rs4651325	1.00[EUR][1000 genomes]
rs4651326	1.00[EUR][1000 genomes]
rs6425045	1.00[EUR][1000 genomes]
rs6425046	1.00[EUR][1000 genomes]
rs6425047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66476634	1.00[EUR][1000 genomes]
rs6656831	1.00[EUR][1000 genomes]
rs6669569	1.00[EUR][1000 genomes]
rs6681138	1.00[EUR][1000 genomes]
rs7517157	1.00[EUR][1000 genomes]
rs7521061	1.00[EUR][1000 genomes]
rs7522771	1.00[EUR][1000 genomes]
rs7537367	1.00[EUR][1000 genomes]
rs7552522	1.00[EUR][1000 genomes]
rs760707	1.00[EUR][1000 genomes]
rs760708	1.00[EUR][1000 genomes]
rs760709	1.00[EUR][1000 genomes]
rs988904	1.00[EUR][1000 genomes]
rs988905	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186626800-186632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:186630400-186633200	Enhancers	NHEK	skin
3	chr1:186630400-186633400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:186630400-186640200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:186631400-186632800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:186631400-186632800	Enhancers	HUVEC	blood vessel
7	chr1:186631400-186633000	Enhancers	HMEC	breast
8	chr1:186631400-186633200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186631400-186633200	Enhancers	Hela-S3	cervix
10	chr1:186631600-186632000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:186631800-186632200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:186631800-186632200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:186631800-186632600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:186631800-186632600	Enhancers	Monocytes-CD14+_RO01746	blood

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