Variant report

Variant	rs12507349
Chromosome Location	chr4:90055389-90055390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90043352..90045261-chr4:90054968..90057885,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10025332	0.93[ASN][1000 genomes]
rs10516828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015025	0.89[ASN][1000 genomes]
rs17770293	0.91[ASN][1000 genomes]
rs2280099	0.89[ASN][1000 genomes]
rs3822085	0.89[ASN][1000 genomes]
rs55806245	0.92[ASN][1000 genomes]
rs55885459	0.84[ASN][1000 genomes]
rs55996516	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56038841	0.84[ASN][1000 genomes]
rs56111951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56147277	0.92[ASN][1000 genomes]
rs56165603	0.89[ASN][1000 genomes]
rs56344658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59283403	0.84[ASN][1000 genomes]
rs59586695	0.84[ASN][1000 genomes]
rs61082288	0.92[ASN][1000 genomes]
rs62306393	0.91[ASN][1000 genomes]
rs6825767	0.93[ASN][1000 genomes]
rs6825804	0.93[ASN][1000 genomes]
rs6826703	0.92[ASN][1000 genomes]
rs6832298	0.92[ASN][1000 genomes]
rs72668125	0.82[ASN][1000 genomes]
rs72668127	0.82[ASN][1000 genomes]
rs72668130	0.82[ASN][1000 genomes]
rs72668134	0.82[ASN][1000 genomes]
rs72668135	0.84[ASN][1000 genomes]
rs72668138	0.81[ASN][1000 genomes]
rs72668144	0.84[ASN][1000 genomes]
rs72668152	0.89[ASN][1000 genomes]
rs72668154	0.89[ASN][1000 genomes]
rs72668156	0.89[ASN][1000 genomes]
rs72668157	0.89[ASN][1000 genomes]
rs72668165	0.89[ASN][1000 genomes]
rs72668167	0.89[ASN][1000 genomes]
rs72668171	0.89[ASN][1000 genomes]
rs72668179	0.91[ASN][1000 genomes]
rs72668183	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72668187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668189	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72668192	0.92[ASN][1000 genomes]
rs72668193	0.92[ASN][1000 genomes]
rs72668195	0.93[ASN][1000 genomes]
rs72668196	0.93[ASN][1000 genomes]
rs72670003	0.93[ASN][1000 genomes]
rs756227	0.93[ASN][1000 genomes]
rs7660709	0.93[ASN][1000 genomes]
rs7669140	0.91[ASN][1000 genomes]
rs7689498	0.84[ASN][1000 genomes]
rs8582	0.89[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90044800-90056000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:90046000-90056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:90047600-90055800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:90050800-90059000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:90051000-90056000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:90051200-90056000	Weak transcription	NHLF	lung
7	chr4:90051400-90055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:90051400-90056000	Weak transcription	Osteobl	bone
9	chr4:90052400-90056000	Weak transcription	A549	lung
10	chr4:90052800-90056000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:90054800-90056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:90055200-90056000	Weak transcription	NH-A	brain
13	chr4:90055200-90056200	Enhancers	NHDF-Ad	bronchial

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