Variant report

Variant	rs12729231
Chromosome Location	chr1:85754207-85754208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85740925..85743894-chr1:85754039..85756993,2	MCF-7	breast:
2	chr1:85749527..85752168-chr1:85753646..85756237,2	MCF-7	breast:
3	chr1:85742429..85744810-chr1:85753404..85755662,2	K562	blood:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction
ENSG00000264380	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10158486	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10493763	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12126112	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12126141	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12134420	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12136214	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12757160	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17382844	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6698331	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71652692	0.95[EUR][1000 genomes];0.83[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85749600-85755000	Weak transcription	A549	lung
5	chr1:85749800-85755000	Weak transcription	Hela-S3	cervix
6	chr1:85749800-85755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:85750000-85761400	Weak transcription	Lung	lung
8	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
9	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:85750800-85755800	Weak transcription	Esophagus	oesophagus
11	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:85751000-85754400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
14	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
15	chr1:85752800-85755400	Enhancers	NHEK	skin
16	chr1:85753600-85755400	Enhancers	HMEC	breast
17	chr1:85753600-85755600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85753600-85758400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:85753600-85758600	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:85753800-85754600	Enhancers	Stomach Mucosa	stomach
21	chr1:85753800-85755400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:85754000-85756600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:85754200-85755000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85754200-85758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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