Variant report

Variant	rs1751450
Chromosome Location	chr9:22242502-22242503
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	chr9:22117390..22119557-chr9:22241595..22244405,2	MCF-7	breast:
2	chr9:21989791..21997438-chr9:22235038..22242897,11	MCF-7	breast:
3	chr9:22208635..22217579-chr9:22235952..22243529,17	MCF-7	breast:
4	chr9:22007456..22010233-chr9:22240335..22243644,3	MCF-7	breast:
5	chr9:22036137..22041888-chr9:22239404..22245288,7	MCF-7	breast:
6	chr9:21811209..21815369-chr9:22236301..22242853,10	MCF-7	breast:
7	chr9:21992499..21995097-chr9:22240805..22243127,2	MCF-7	breast:
8	chr9:22104503..22107201-chr9:22240105..22242978,2	MCF-7	breast:
9	chr9:21802832..21807048-chr9:22241565..22244706,4	MCF-7	breast:
10	chr9:22134738..22136588-chr9:22241376..22243783,2	MCF-7	breast:
11	chr9:22236750..22240828-chr9:22241723..22245901,7	MCF-7	breast:
12	chr9:22100911..22107878-chr9:22236967..22244514,15	MCF-7	breast:
13	chr9:22083425..22085811-chr9:22242002..22244310,2	MCF-7	breast:
14	chr9:22242451..22244465-chr9:22446042..22447921,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction
ENSG00000229298	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000099810	Chromatin interaction
ENSG00000236921	Chromatin interaction
ENSG00000176399	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10811689	1.00[CHB][hapmap]
rs1327045	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1327046	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1327049	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1575964	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1590628	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1590630	1.00[CHB][hapmap]
rs1620570	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1625388	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1625409	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1679018	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs1679020	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1679022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1679023	0.83[AMR][1000 genomes]
rs1679024	0.85[EUR][1000 genomes]
rs1679026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1679028	0.83[AMR][1000 genomes]
rs1751435	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1751437	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1751438	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1751451	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1751452	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751453	0.85[EUR][1000 genomes]
rs2025798	0.83[AMR][1000 genomes]
rs4246844	1.00[CHB][hapmap]
rs4246845	1.00[CHB][hapmap]
rs4256664	1.00[CHB][hapmap]
rs6475627	1.00[CHB][hapmap]
rs7037085	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv892749	chr9:22125913-22244280	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1021264	chr9:22159622-22293804	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1033789	chr9:22183150-22266091	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 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	chr9:22239000-22244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:22240200-22244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:22240200-22244600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:22241000-22244800	Weak transcription	HUVEC	blood vessel
5	chr9:22241000-22245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:22241400-22243600	Weak transcription	NHEK	skin
7	chr9:22241400-22243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:22241400-22243800	Weak transcription	HMEC	breast
9	chr9:22241400-22244600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:22241400-22251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:22241800-22244000	Weak transcription	A549	lung
12	chr9:22241800-22244400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:22242000-22243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:22242000-22243600	Weak transcription	Hela-S3	cervix
15	chr9:22242000-22243600	Weak transcription	NH-A	brain
16	chr9:22242000-22243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:22242000-22244000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:22242000-22244600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:22242000-22245200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:22242200-22242800	Enhancers	GM12878-XiMat	blood
21	chr9:22242400-22244800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr9:22242400-22245000	Weak transcription	Primary B cells from cord blood	blood

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