Variant report

Variant	rs13418054
Chromosome Location	chr2:49098018-49098019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:49096223..49098177-chr2:49104222..49106803,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10187109	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210521	0.91[ASN][1000 genomes]
rs10210646	0.89[ASN][1000 genomes]
rs10490126	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10490127	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12469769	0.99[ASN][1000 genomes]
rs12477968	0.99[ASN][1000 genomes]
rs12478030	0.99[ASN][1000 genomes]
rs17037685	0.98[ASN][1000 genomes]
rs17037688	0.98[ASN][1000 genomes]
rs17037700	0.98[ASN][1000 genomes]
rs17037744	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34307840	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34682390	0.96[ASN][1000 genomes]
rs35457516	0.98[ASN][1000 genomes]
rs35486816	0.98[ASN][1000 genomes]
rs35629921	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4254550	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4605416	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55671226	0.84[ASN][1000 genomes]
rs55671322	0.88[ASN][1000 genomes]
rs56146087	0.89[ASN][1000 genomes]
rs56406984	0.85[ASN][1000 genomes]
rs61349130	0.86[ASN][1000 genomes]
rs62137442	0.92[ASN][1000 genomes]
rs62137443	0.93[ASN][1000 genomes]
rs6419618	0.86[EUR][1000 genomes]
rs66519107	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6708130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755046	0.87[ASN][1000 genomes]
rs68045719	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72811865	0.85[ASN][1000 genomes]
rs72811866	0.85[ASN][1000 genomes]
rs72811894	0.85[ASN][1000 genomes]
rs72811897	0.86[ASN][1000 genomes]
rs72811898	0.86[ASN][1000 genomes]
rs72811899	0.88[ASN][1000 genomes]
rs72813703	0.91[ASN][1000 genomes]
rs72813705	0.91[ASN][1000 genomes]
rs72813714	0.91[ASN][1000 genomes]
rs72823278	0.96[ASN][1000 genomes]
rs72823284	0.96[ASN][1000 genomes]
rs72823285	0.98[ASN][1000 genomes]
rs72823286	0.98[ASN][1000 genomes]
rs72825204	0.89[ASN][1000 genomes]
rs733726	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874005	chr2:49086399-49142199	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1013414	chr2:49090394-49191927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1012090	chr2:49090394-49192704	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874006	chr2:49092782-49141414	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1006364	chr2:49096139-49147372	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr2:49092800-49098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:49097400-49098400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:49097600-49098200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:49097600-49098400	Enhancers	Fetal Stomach	stomach
5	chr2:49097600-49098600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:49097800-49098400	Enhancers	Brain Germinal Matrix	brain
7	chr2:49097800-49098600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:49098000-49098200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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