Variant report

Variant	rs9677412
Chromosome Location	chr2:46632083-46632084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46630338..46632777-chr2:46688493..46691339,2	K562	blood:
2	chr2:46631775..46634525-chr2:46644116..46646273,2	K562	blood:
3	chr2:46631440..46633465-chr2:46633635..46635247,2	K562	blood:
4	chr2:46625225..46629384-chr2:46629582..46633284,5	K562	blood:
5	chr2:46629153..46633507-chr2:46634086..46636395,4	MCF-7	breast:
6	chr2:46631504..46633445-chr2:46635398..46638031,3	K562	blood:
7	chr2:46607624..46609336-chr2:46631588..46633716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10865214	0.94[ASN][1000 genomes]
rs11686509	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11686705	0.83[EUR][1000 genomes]
rs11689989	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691694	0.81[EUR][1000 genomes]
rs11693596	0.80[EUR][1000 genomes]
rs11693754	0.83[EUR][1000 genomes]
rs12991568	0.95[ASN][1000 genomes]
rs13424253	0.81[CEU][hapmap];0.80[ASN][1000 genomes]
rs1900592	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1900593	0.95[ASN][1000 genomes]
rs4450662	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs55826825	0.81[EUR][1000 genomes]
rs55864213	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56058321	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56140012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56768253	0.81[EUR][1000 genomes]
rs58481769	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7591548	0.81[EUR][1000 genomes]
rs7605241	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7606737	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46629000-46636000	Weak transcription	Right Ventricle	heart
3	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46631000-46633400	Enhancers	HepG2	liver
5	chr2:46631200-46634200	Enhancers	Placenta	Placenta
6	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:46631400-46635200	Weak transcription	A549	lung
8	chr2:46631600-46632600	Enhancers	K562	blood

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