Variant report

Variant	rs1522707
Chromosome Location	chr8:104287845-104287846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104285760..104288656-chr8:104356267..104358351,3	K562	blood:
2	chr8:104220153..104222902-chr8:104286584..104288118,2	MCF-7	breast:
3	chr8:104285055..104288416-chr8:104382209..104384778,3	MCF-7	breast:
4	chr8:104265585..104267181-chr8:104287426..104290104,2	MCF-7	breast:
5	chr8:104286944..104288566-chr8:104309755..104312213,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164929	Chromatin interaction
ENSG00000164932	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1138873	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12541167	0.89[MEX][hapmap];0.84[AMR][1000 genomes]
rs12543038	0.82[GIH][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs13275377	0.84[AMR][1000 genomes]
rs13278361	0.84[AMR][1000 genomes]
rs13278540	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1353212	0.81[AMR][1000 genomes]
rs1353213	0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs1403293	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1494278	0.84[AMR][1000 genomes]
rs1568641	0.86[AMR][1000 genomes]
rs17205332	0.83[CEU][hapmap];0.84[AMR][1000 genomes]
rs17799604	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1965482	0.86[CHB][hapmap]
rs1982892	0.84[AMR][1000 genomes]
rs1982893	0.84[AMR][1000 genomes]
rs2131860	0.83[MEX][hapmap]
rs2220825	0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs2270525	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs3104029	0.84[AMR][1000 genomes]
rs3104031	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3107646	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107648	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs3116457	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3116462	0.86[AMR][1000 genomes]
rs3116464	0.84[AMR][1000 genomes]
rs3116466	0.84[AMR][1000 genomes]
rs3116468	0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs3133798	0.83[JPT][hapmap]
rs3133820	0.84[AMR][1000 genomes]
rs3133821	0.84[AMR][1000 genomes]
rs3133824	0.84[AMR][1000 genomes]
rs3133825	0.86[CHB][hapmap]
rs3133834	0.86[CHB][hapmap]
rs3133835	0.86[CHB][hapmap]
rs34185273	0.81[AMR][1000 genomes]
rs34201011	0.84[AMR][1000 genomes]
rs34273148	0.84[AMR][1000 genomes]
rs827541	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1522707	SLC25A32	cis	cerebellum	SCAN
rs1522707	MAN2A1	trans	lymphoblastoid	seeQTL
rs1522707	FZD6	cis	cerebellum	SCAN
rs1522707	UBR5	cis	brain	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104284000-104289600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:104284800-104289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104284800-104295400	Weak transcription	Aorta	Aorta
4	chr8:104286000-104289400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104286400-104290400	Enhancers	HMEC	breast
6	chr8:104286400-104291800	Weak transcription	Left Ventricle	heart
7	chr8:104286600-104290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:104286800-104290800	Enhancers	NHEK	skin
9	chr8:104287000-104289000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:104287000-104290600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:104287000-104291200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:104287000-104292200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104287200-104290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:104287200-104291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:104287400-104288000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:104287600-104288200	Enhancers	Esophagus	oesophagus
17	chr8:104287600-104289000	Enhancers	NHDF-Ad	bronchial
18	chr8:104287800-104288400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:104287800-104288400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:104287800-104288600	Weak transcription	HSMM	muscle
21	chr8:104287800-104289600	Weak transcription	Osteobl	bone

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