Variant report

Variant	rs12442221
Chromosome Location	chr15:39797842-39797843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39796929..39799190-chr15:39801226..39804372,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10152903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152951	1.00[ASN][1000 genomes]
rs1038097	1.00[ASN][1000 genomes]
rs1051442	1.00[ASN][1000 genomes]
rs12438058	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12442155	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379938	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1382443	1.00[ASN][1000 genomes]
rs1382444	1.00[ASN][1000 genomes]
rs16969143	1.00[ASN][1000 genomes]
rs16969167	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17631807	1.00[ASN][1000 genomes]
rs17633107	1.00[ASN][1000 genomes]
rs17633210	1.00[ASN][1000 genomes]
rs17702987	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705806	1.00[ASN][1000 genomes]
rs17706179	1.00[ASN][1000 genomes]
rs1813493	1.00[ASN][1000 genomes]
rs2228262	1.00[ASN][1000 genomes]
rs2228263	1.00[ASN][1000 genomes]
rs2618156	1.00[ASN][1000 genomes]
rs2618161	1.00[ASN][1000 genomes]
rs2618166	1.00[ASN][1000 genomes]
rs2618167	1.00[ASN][1000 genomes]
rs2664123	1.00[ASN][1000 genomes]
rs2664137	1.00[ASN][1000 genomes]
rs28622135	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35275624	1.00[ASN][1000 genomes]
rs41315060	1.00[ASN][1000 genomes]
rs4923835	1.00[ASN][1000 genomes]
rs58188999	1.00[ASN][1000 genomes]
rs62002368	1.00[ASN][1000 genomes]
rs62002377	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002378	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002379	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002380	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002384	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179604	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74008526	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74008647	1.00[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39789000-39800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:39789000-39803200	Weak transcription	Left Ventricle	heart
3	chr15:39791600-39803200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:39791600-39803400	Weak transcription	Fetal Lung	lung
5	chr15:39792200-39803600	Weak transcription	Ovary	ovary
6	chr15:39793800-39802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:39793800-39803200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:39793800-39803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:39794000-39800600	Weak transcription	HSMM	muscle
10	chr15:39794400-39802800	Weak transcription	Fetal Heart	heart
11	chr15:39794600-39801000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:39795400-39800600	Weak transcription	K562	blood
13	chr15:39795400-39803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:39795800-39798000	Enhancers	NHDF-Ad	bronchial
15	chr15:39795800-39799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:39796000-39798400	Enhancers	NHLF	lung
17	chr15:39796200-39799600	Enhancers	Osteobl	bone
18	chr15:39796400-39799400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:39796600-39799200	Enhancers	NH-A	brain
20	chr15:39796800-39804000	Weak transcription	Lung	lung
21	chr15:39797000-39803200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:39797200-39798800	Weak transcription	HMEC	breast
23	chr15:39797600-39798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:39797600-39800800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:39797600-39800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:39797600-39803200	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:39797800-39800800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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