Variant report

Variant	rs62138871
Chromosome Location	chr2:46630861-46630862
allele	A/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	chr2:46629116..46631183-chr2:46648278..46651239,2	K562	blood:
3	chr2:46629599..46631246-chr2:46635810..46637676,2	MCF-7	breast:
4	chr2:46628197..46631151-chr2:46648455..46651249,2	MCF-7	breast:
5	chr2:46625225..46629384-chr2:46629582..46633284,5	K562	blood:
6	chr2:46629153..46633507-chr2:46634086..46636395,4	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1109286	0.89[ASN][1000 genomes]
rs11675232	0.85[AMR][1000 genomes]
rs11675328	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675441	0.84[AMR][1000 genomes]
rs11678465	0.89[AMR][1000 genomes]
rs11678817	0.88[AMR][1000 genomes]
rs11681242	0.82[AMR][1000 genomes]
rs11686509	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686705	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689694	0.80[ASN][1000 genomes]
rs11689989	0.82[EUR][1000 genomes]
rs11690114	0.88[ASN][1000 genomes]
rs11690951	0.88[AMR][1000 genomes]
rs11691694	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11693596	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11693754	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694193	0.89[AMR][1000 genomes]
rs13006131	0.88[AMR][1000 genomes]
rs1530622	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1868092	0.92[AMR][1000 genomes]
rs1868093	0.92[AMR][1000 genomes]
rs1868094	0.92[AMR][1000 genomes]
rs1900592	0.82[EUR][1000 genomes]
rs35193335	0.99[ASN][1000 genomes]
rs4952823	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs55826825	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55864213	0.82[EUR][1000 genomes]
rs56058321	0.82[EUR][1000 genomes]
rs56140012	0.82[EUR][1000 genomes]
rs56161503	0.92[AMR][1000 genomes]
rs58481769	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034065	0.84[AMR][1000 genomes]
rs7557402	0.85[AMR][1000 genomes]
rs7567582	0.89[AMR][1000 genomes]
rs7583088	0.89[AMR][1000 genomes]
rs7583392	0.89[AMR][1000 genomes]
rs7591548	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594278	0.89[AMR][1000 genomes]
rs7598371	0.88[AMR][1000 genomes]
rs7606559	0.88[AMR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46620400-46631600	Weak transcription	K562	blood
3	chr2:46622800-46631200	Weak transcription	Placenta	Placenta
4	chr2:46629000-46636000	Weak transcription	Right Ventricle	heart
5	chr2:46630000-46631000	Weak transcription	HepG2	liver
6	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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