Variant report

Variant	rs59775624
Chromosome Location	chr1:86875523-86875524
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	USF1	chr1:86875088-86875594	K562	blood:	n/a	chr1:86875381-86875392
2	BHLHE40	chr1:86875164-86875545	K562	blood:	n/a	n/a
3	KAP1	chr1:86875082-86875595	HEK293	kidney:	n/a	n/a
4	NANOG	chr1:86875431-86875725	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:86875331-86875531	HepG2	liver:	n/a	n/a
6	MAX	chr1:86875090-86875546	K562	blood:	n/a	n/a
7	TEAD4	chr1:86875314-86875667	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:86875489-86875540	K562	blood:	n/a	n/a
9	USF1	chr1:86875173-86875576	K562	blood:	n/a	chr1:86875381-86875392
10	USF1	chr1:86875184-86875578	ECC-1	luminal epithelium:	n/a	chr1:86875381-86875392
11	USF2	chr1:86875217-86875537	K562	blood:	n/a	n/a
12	MAX	chr1:86875152-86875554	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86874407..86876870-chr1:86880022..86881970,2	K562	blood:
2	chr1:86875370..86876946-chr1:86879084..86881970,2	K562	blood:

Variant related genes	Relation type
ENSG00000231349	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11161808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12022446	0.83[AMR][1000 genomes]
rs12023726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12023799	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12029568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12030666	1.00[AMR][1000 genomes]
rs12032435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12034967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12037028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12037391	0.83[AMR][1000 genomes]
rs12038144	0.83[AMR][1000 genomes]
rs12038844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12039899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12042822	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12043873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12044970	0.83[AMR][1000 genomes]
rs12045012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12045465	0.83[AMR][1000 genomes]
rs12046199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12046894	0.83[AMR][1000 genomes]
rs12047304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12047913	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12048082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12048329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12747430	1.00[ASN][1000 genomes]
rs2274999	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28688345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28788025	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34204564	0.81[ASN][1000 genomes]
rs36096788	0.90[ASN][1000 genomes]
rs3737671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3765509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3765984	0.90[ASN][1000 genomes]
rs3765987	0.90[ASN][1000 genomes]
rs3820038	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3820041	0.90[ASN][1000 genomes]
rs4497186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4656103	0.90[ASN][1000 genomes]
rs55812833	0.93[ASN][1000 genomes]
rs55825812	0.93[ASN][1000 genomes]
rs55857117	1.00[ASN][1000 genomes]
rs56187142	0.93[ASN][1000 genomes]
rs57955693	1.00[ASN][1000 genomes]
rs58658794	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86862400-86876400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:86873400-86876600	Weak transcription	Right Atrium	heart
3	chr1:86875000-86875800	Enhancers	K562	blood
4	chr1:86875200-86875600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:86875200-86875600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:86875200-86875600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:86875200-86875800	Enhancers	NHDF-Ad	bronchial
8	chr1:86875200-86876000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:86875200-86876200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:86875200-86876400	Active TSS	Spleen	Spleen
11	chr1:86875400-86875600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:86875400-86876000	Enhancers	Fetal Intestine Large	intestine
13	chr1:86875400-86876000	Enhancers	Fetal Intestine Small	intestine

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