Variant report

Variant	rs10208774
Chromosome Location	chr2:55687786-55687787
allele	C/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	BACH1	chr2:55687638-55687956	K562	blood:	n/a	n/a
2	IRF1	chr2:55687050-55688084	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924
3	MAFK	chr2:55687759-55688072	HepG2	liver:	n/a	chr2:55687933-55687942 chr2:55687931-55687946
4	MAFK	chr2:55687763-55688078	K562	blood:	n/a	chr2:55687933-55687942 chr2:55687931-55687946
5	MAFF	chr2:55687753-55688055	K562	blood:	n/a	chr2:55687930-55687948
6	STAT2	chr2:55687725-55688099	K562	blood:	n/a	chr2:55687907-55687922 chr2:55687910-55687921
7	EP300	chr2:55687422-55687793	K562	blood:	n/a	chr2:55687747-55687761
8	MAFF	chr2:55687714-55688096	HepG2	liver:	n/a	chr2:55687930-55687948
9	STAT3	chr2:55687740-55688093	MCF10A-Er-Src	breast:	n/a	chr2:55687910-55687921 chr2:55687917-55687928
10	IRF1	chr2:55687744-55688088	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924
11	CEBPB	chr2:55687714-55688029	HepG2	liver:	n/a	n/a
12	RCOR1	chr2:55687713-55688035	K562	blood:	n/a	n/a
13	ZNF384	chr2:55687744-55688170	K562	blood:	n/a	n/a
14	MAFK	chr2:55687755-55688092	HepG2	liver:	n/a	chr2:55687933-55687942 chr2:55687931-55687946
15	IRF1	chr2:55687731-55688016	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924

No.	Distal block	Cell Line	Cell type
1	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:
2	chr2:55685859..55689699-chr2:55700621..55705668,4	K562	blood:
3	chr2:55685859..55688576-chr2:55704168..55705704,2	K562	blood:

Variant related genes	Relation type
RNU6-221P	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10176385	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10221888	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10427222	0.83[YRI][hapmap]
rs10496044	0.83[YRI][hapmap]
rs11900763	0.84[YRI][hapmap]
rs13028892	0.83[YRI][hapmap]
rs13382187	0.84[YRI][hapmap]
rs13383352	0.84[YRI][hapmap]
rs13384322	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387722	0.88[ASN][1000 genomes]
rs13401923	1.00[CHB][hapmap]
rs13407344	0.84[YRI][hapmap]
rs13417137	1.00[EUR][1000 genomes]
rs17047119	0.87[YRI][hapmap]
rs28742976	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816489	0.83[YRI][hapmap]
rs3974266	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4671248	0.83[YRI][hapmap]
rs6545508	0.86[YRI][hapmap]
rs6545513	0.83[YRI][hapmap]
rs7558127	0.81[YRI][hapmap]
rs7594497	0.83[YRI][hapmap]
rs9636439	0.83[YRI][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55686600-55688200	Flanking Active TSS	K562	blood
2	chr2:55687200-55687800	Active TSS	Osteobl	bone
3	chr2:55687600-55688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:55687600-55688200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:55687600-55688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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