Variant report

Variant	rs17043468
Chromosome Location	chr2:53045620-53045621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1011229	0.92[ASN][1000 genomes]
rs10168366	0.85[ASN][1000 genomes]
rs10191767	0.85[ASN][1000 genomes]
rs10191772	0.85[ASN][1000 genomes]
rs10197414	0.92[ASN][1000 genomes]
rs10200359	0.88[ASN][1000 genomes]
rs10203492	0.91[ASN][1000 genomes]
rs10490580	0.85[ASN][1000 genomes]
rs10490581	0.88[ASN][1000 genomes]
rs10490582	0.89[ASN][1000 genomes]
rs10490584	0.90[ASN][1000 genomes]
rs10496009	0.89[ASN][1000 genomes]
rs10865265	0.83[ASN][1000 genomes]
rs10865266	0.92[ASN][1000 genomes]
rs10865267	0.91[ASN][1000 genomes]
rs10865268	0.89[ASN][1000 genomes]
rs10865269	0.89[ASN][1000 genomes]
rs10865270	0.89[ASN][1000 genomes]
rs10865271	0.89[ASN][1000 genomes]
rs11125447	0.89[ASN][1000 genomes]
rs11125448	0.89[ASN][1000 genomes]
rs11125449	0.87[ASN][1000 genomes]
rs11125451	0.89[ASN][1000 genomes]
rs11125452	0.89[ASN][1000 genomes]
rs11674281	0.85[ASN][1000 genomes]
rs11678960	0.88[ASN][1000 genomes]
rs11679043	0.89[ASN][1000 genomes]
rs11680083	0.89[ASN][1000 genomes]
rs12470339	0.91[ASN][1000 genomes]
rs12713220	0.89[ASN][1000 genomes]
rs12987207	0.89[ASN][1000 genomes]
rs12989176	0.85[ASN][1000 genomes]
rs13008949	0.89[ASN][1000 genomes]
rs13012180	0.91[ASN][1000 genomes]
rs13019052	0.81[ASN][1000 genomes]
rs1376559	0.89[ASN][1000 genomes]
rs1376560	0.85[ASN][1000 genomes]
rs1376562	0.85[ASN][1000 genomes]
rs1377958	0.90[ASN][1000 genomes]
rs1454403	0.92[ASN][1000 genomes]
rs1549750	0.87[ASN][1000 genomes]
rs1588402	0.92[ASN][1000 genomes]
rs17043487	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17043770	0.85[EUR][1000 genomes]
rs17043777	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs17043784	0.87[CEU][hapmap]
rs17043785	1.00[CEU][hapmap]
rs1868903	0.89[ASN][1000 genomes]
rs2015632	0.91[ASN][1000 genomes]
rs2195655	0.89[ASN][1000 genomes]
rs2195656	0.89[ASN][1000 genomes]
rs2195657	0.89[ASN][1000 genomes]
rs2217457	0.87[ASN][1000 genomes]
rs2356673	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2883991	0.90[ASN][1000 genomes]
rs2883992	0.85[ASN][1000 genomes]
rs4364055	0.91[ASN][1000 genomes]
rs4365497	0.91[ASN][1000 genomes]
rs4671236	0.89[ASN][1000 genomes]
rs4671237	0.89[ASN][1000 genomes]
rs4672008	0.89[ASN][1000 genomes]
rs4672012	0.84[ASN][1000 genomes]
rs6728631	0.81[ASN][1000 genomes]
rs6739762	0.95[ASN][1000 genomes]
rs6741003	0.87[ASN][1000 genomes]
rs6742712	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7575309	0.95[ASN][1000 genomes]
rs7602150	0.95[ASN][1000 genomes]
rs7606874	0.87[ASN][1000 genomes]
rs785301	0.88[ASN][1000 genomes]
rs785305	0.87[ASN][1000 genomes]
rs785307	0.86[ASN][1000 genomes]
rs919531	0.89[ASN][1000 genomes]
rs965441	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs993344	0.91[ASN][1000 genomes]
rs993345	0.91[ASN][1000 genomes]
rs993346	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834047	chr2:52874257-53056239	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv874135	chr2:52937317-53061834	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv431058	chr2:52944395-53057924	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv524806	chr2:53013320-53052480	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv581976	chr2:53013320-53056546	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1011670	chr2:53013320-53058194	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv581977	chr2:53023825-53056546	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53027800-53049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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