Variant report

Variant	rs2124148
Chromosome Location	chr5:57292354-57292355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57290033..57292434-chr5:57751650..57753353,2	MCF-7	breast:
2	chr5:57278201..57280786-chr5:57291082..57293497,2	K562	blood:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037252	0.83[ASN][1000 genomes]
rs10068767	0.83[ASN][1000 genomes]
rs10080109	0.87[ASN][1000 genomes]
rs1027163	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1037559	1.00[ASN][1000 genomes]
rs11743935	0.83[ASN][1000 genomes]
rs1304354	1.00[ASN][1000 genomes]
rs13162869	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13173455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13186838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1349955	1.00[ASN][1000 genomes]
rs1378247	1.00[ASN][1000 genomes]
rs1387633	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387636	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387637	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454904	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1454907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1454919	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1454922	1.00[ASN][1000 genomes]
rs1454923	1.00[ASN][1000 genomes]
rs1489785	0.83[ASN][1000 genomes]
rs1489787	1.00[ASN][1000 genomes]
rs1489789	1.00[ASN][1000 genomes]
rs1489792	1.00[ASN][1000 genomes]
rs1489796	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1546035	0.83[ASN][1000 genomes]
rs1565339	1.00[ASN][1000 genomes]
rs1840394	0.83[ASN][1000 genomes]
rs1844436	0.83[ASN][1000 genomes]
rs1964507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409025	0.93[AMR][1000 genomes]
rs2409026	0.93[AMR][1000 genomes]
rs4429810	0.83[ASN][1000 genomes]
rs4541617	0.93[AMR][1000 genomes]
rs4637506	0.93[AMR][1000 genomes]
rs6450454	0.83[ASN][1000 genomes]
rs6450455	1.00[ASN][1000 genomes]
rs724114	0.85[ASN][1000 genomes]
rs72753316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72753324	0.85[ASN][1000 genomes]
rs7714449	1.00[ASN][1000 genomes]
rs7715831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7722307	0.83[ASN][1000 genomes]
rs7725138	0.83[ASN][1000 genomes]
rs9292147	0.83[ASN][1000 genomes]
rs9292151	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs971399	0.83[ASN][1000 genomes]
rs995442	0.83[ASN][1000 genomes]
rs995443	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1792273	chr5:57214817-57320343	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv10700	chr5:57277483-57313710	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817904	chr5:57277522-57359476	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1829717	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1830976	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1837615	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1846984	chr5:57277522-57359476	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1850205	chr5:57277522-57359476	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 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	chr5:57285200-57297600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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