Variant report

Variant	rs1549748
Chromosome Location	chr2:53131229-53131230
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006931	0.83[ASN][1000 genomes]
rs1011229	1.00[EUR][1000 genomes]
rs10496009	1.00[EUR][1000 genomes]
rs12470339	1.00[EUR][1000 genomes]
rs12471375	1.00[EUR][1000 genomes]
rs13403709	0.83[ASN][1000 genomes]
rs13404094	0.81[ASN][1000 genomes]
rs1377958	0.92[EUR][1000 genomes]
rs1454403	1.00[EUR][1000 genomes]
rs17043593	0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs17043603	0.82[CHD][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes]
rs17043607	0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs17043766	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17043770	0.83[ASN][1000 genomes]
rs17043777	0.92[JPT][hapmap]
rs17043784	0.81[ASN][1000 genomes]
rs17043785	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17043814	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17043816	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1868904	1.00[EUR][1000 genomes]
rs2839750	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770388	1.00[EUR][1000 genomes]
rs41403348	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs41523148	1.00[JPT][hapmap]
rs4524156	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4671948	0.85[EUR][1000 genomes]
rs56066502	1.00[EUR][1000 genomes]
rs56122338	1.00[EUR][1000 genomes]
rs56361754	1.00[EUR][1000 genomes]
rs57955203	0.85[EUR][1000 genomes]
rs58123872	1.00[EUR][1000 genomes]
rs59711835	1.00[EUR][1000 genomes]
rs60553623	1.00[EUR][1000 genomes]
rs61026963	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73933669	1.00[EUR][1000 genomes]
rs7575309	1.00[EUR][1000 genomes]
rs7577236	0.85[EUR][1000 genomes]
rs7602150	1.00[EUR][1000 genomes]
rs965441	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs965442	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv874136	chr2:53101066-53218774	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv874137	chr2:53114775-53216917	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv874138	chr2:53114775-53218774	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv33728	chr2:53125665-53131680	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
12	nsv1007543	chr2:53129090-53148411	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1009138	chr2:53129701-53167075	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53109400-53145600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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