Variant report

Variant	rs1179452
Chromosome Location	chr12:120814995-120814996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120807905..120811121-chr12:120812989..120814998,3	K562	blood:
2	chr12:120808109..120810194-chr12:120813483..120815462,2	MCF-7	breast:
3	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
4	chr12:120812502..120815331-chr12:120816512..120818063,2	K562	blood:
5	chr12:120813114..120815441-chr12:120875563..120877352,2	MCF-7	breast:
6	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:

Variant related genes	Relation type
ENSG00000239881	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111775	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1151840	1.00[AMR][1000 genomes]
rs1151844	1.00[AMR][1000 genomes]
rs1167357	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1179439	0.87[AFR][1000 genomes]
rs1179448	1.00[AMR][1000 genomes]
rs1179453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13343210	1.00[AMR][1000 genomes]
rs1794737	1.00[AMR][1000 genomes]
rs1794739	1.00[AMR][1000 genomes]
rs2743850	1.00[AMR][1000 genomes]
rs499344	1.00[AMR][1000 genomes]
rs548087	1.00[AMR][1000 genomes]
rs548201	1.00[AMR][1000 genomes]
rs583686	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120813200-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:120813600-120815000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120813600-120815200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120813600-120815400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120813600-120815600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:120813600-120815600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:120813600-120815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:120813600-120815600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:120813800-120815000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:120813800-120815000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:120813800-120815400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:120813800-120815600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:120813800-120815800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:120813800-120819200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:120814000-120815000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:120814000-120815800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:120814000-120819200	Weak transcription	Hela-S3	cervix
18	chr12:120814200-120815400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:120814200-120815400	Enhancers	Pancreas	Pancrea
20	chr12:120814400-120815400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:120814400-120815800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:120814600-120819200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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