Variant report

Variant	rs696689
Chromosome Location	chr1:75052021-75052022
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr1:75051967-75052521	Hela-S3	cervix:	n/a	chr1:75052159-75052172 chr1:75052153-75052162 chr1:75052152-75052166 chr1:75052157-75052172 chr1:75052159-75052168 chr1:75052158-75052172 chr1:75052153-75052166
2	IRF1	chr1:75052006-75052264	K562	blood:	n/a	chr1:75052155-75052165 chr1:75052154-75052165 chr1:75052149-75052166 chr1:75052154-75052167 chr1:75052161-75052175 chr1:75052159-75052170 chr1:75052155-75052169 chr1:75052154-75052167 chr1:75052153-75052173 chr1:75052154-75052168 chr1:75052154-75052167 chr1:75052153-75052167 chr1:75052157-75052171 chr1:75052160-75052173

Variant related genes	Relation type
ENSG00000234497	TF binding region

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12562866	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12567936	0.84[CHB][hapmap]
rs12567994	0.84[CHB][hapmap]
rs1340986	0.80[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1417586	0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17095629	0.86[CHB][hapmap]
rs17095663	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs2218354	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305549	0.84[CHB][hapmap]
rs2344506	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3845354	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3911348	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3911353	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3931879	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3934045	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41289218	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59596845	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs670928	0.82[ASN][1000 genomes]
rs696686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs696687	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs696688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs696700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs696702	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs699849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72984923	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72984937	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs730645	0.84[JPT][hapmap]
rs7512964	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7543295	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9661135	0.81[CEU][hapmap];0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv870824	chr1:75019390-75125581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75051800-75052200	Active TSS	Muscle Satellite Cultured Cells	--
2	chr1:75051800-75052200	Active TSS	Adipose Nuclei	Adipose
3	chr1:75051800-75052200	Active TSS	NHLF	lung
4	chr1:75051800-75052400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:75051800-75052600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:75051800-75052600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:75051800-75052600	Active TSS	Liver	Liver
8	chr1:75051800-75052600	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:75052000-75052200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:75052000-75052400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:75052000-75052400	Active TSS	Dnd41	blood
12	chr1:75052000-75052400	Active TSS	GM12878-XiMat	blood
13	chr1:75052000-75052400	Active TSS	HepG2	liver
14	chr1:75052000-75052600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:75052000-75052600	Active TSS	HMEC	breast

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