Variant report

Variant	rs12452082
Chromosome Location	chr17:45944001-45944002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45907496..45909076-chr17:45942924..45945465,2	K562	blood:
2	chr17:45942966..45946834-chr17:45959639..45963061,4	MCF-7	breast:
3	chr17:45938415..45940216-chr17:45942794..45944521,2	K562	blood:
4	chr17:45931856..45934572-chr17:45940574..45944336,3	K562	blood:
5	chr17:45943796..45945509-chr17:46048645..46050240,2	K562	blood:
6	chr17:45918428..45920054-chr17:45942464..45944010,2	MCF-7	breast:
7	chr17:45943296..45945014-chr17:45970935..45972953,2	K562	blood:
8	chr17:45918706..45921396-chr17:45943154..45946269,3	K562	blood:
9	chr17:45926837..45930514-chr17:45942433..45945134,4	K562	blood:
10	chr17:45943485..45945965-chr17:45965955..45967991,2	K562	blood:
11	chr17:45924111..45929589-chr17:45940263..45947435,9	MCF-7	breast:
12	chr17:45915665..45918178-chr17:45942121..45944578,2	K562	blood:
13	chr17:45942899..45944739-chr17:45959534..45961329,2	K562	blood:
14	chr17:45925854..45929036-chr17:45942221..45945490,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141294	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000141295	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11079804	0.94[MEX][hapmap]
rs11545723	0.88[MEX][hapmap]
rs12948368	0.81[AMR][1000 genomes]
rs2074191	1.00[MEX][hapmap]
rs35004787	0.85[AMR][1000 genomes]
rs35132293	0.81[AMR][1000 genomes]
rs35480192	0.81[AMR][1000 genomes]
rs35533494	0.85[AMR][1000 genomes]
rs35702577	0.81[AMR][1000 genomes]
rs4793693	0.81[AMR][1000 genomes]
rs4793734	0.88[MEX][hapmap]
rs4794225	0.84[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes]
rs56119022	0.85[AMR][1000 genomes]
rs62067368	0.81[AMR][1000 genomes]
rs66721410	0.85[AMR][1000 genomes]
rs7220419	1.00[MEX][hapmap]
rs757061	1.00[MEX][hapmap]
rs991108	0.83[MEX][hapmap]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45935800-45946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:45939600-45945400	Enhancers	Placenta	Placenta
3	chr17:45940800-45944200	Weak transcription	Spleen	Spleen
4	chr17:45941600-45944800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:45941800-45945400	Enhancers	Fetal Thymus	thymus
6	chr17:45941800-45946000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr17:45942200-45948200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:45942400-45946600	Weak transcription	Hela-S3	cervix
9	chr17:45942600-45944800	Enhancers	HMEC	breast
10	chr17:45942800-45944600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:45942800-45945200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:45942800-45945800	Enhancers	Fetal Heart	heart
13	chr17:45942800-45947000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:45943000-45946400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:45943000-45950000	Weak transcription	HSMM	muscle
16	chr17:45943200-45947600	Weak transcription	A549	lung
17	chr17:45943400-45946600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:45943800-45944200	Weak transcription	Esophagus	oesophagus
19	chr17:45943800-45945000	Flanking Active TSS	K562	blood
20	chr17:45944000-45944200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45944000-45944200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr17:45944000-45944400	Enhancers	NHDF-Ad	bronchial
23	chr17:45944000-45944600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:45944000-45944600	Enhancers	Right Ventricle	heart
25	chr17:45944000-45947800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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