Variant report

Variant	rs71484430
Chromosome Location	chr11:57019949-57019950
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	chr11:57018230..57020024-chr11:57091616..57094566,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254662	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12574780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576855	1.00[AFR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786396	1.00[AFR][1000 genomes]
rs12787728	0.93[AMR][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12789248	1.00[AFR][1000 genomes]
rs12789789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790623	1.00[AFR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12792425	1.00[AFR][1000 genomes]
rs12794899	1.00[AFR][1000 genomes]
rs12797343	1.00[AFR][1000 genomes]
rs12797375	0.93[AMR][1000 genomes]
rs12798121	1.00[AFR][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800402	1.00[AFR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12801201	1.00[AFR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12804298	1.00[AFR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12807925	1.00[AFR][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808534	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151560	1.00[AFR][1000 genomes]
rs17151564	1.00[AFR][1000 genomes]
rs17151596	1.00[AFR][1000 genomes]
rs17151610	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2511025	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2846046	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851723	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34014874	1.00[AFR][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34085089	0.93[AMR][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572680	1.00[AFR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34742309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34754262	1.00[AFR][1000 genomes]
rs34761603	1.00[AFR][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34786579	1.00[AFR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35284031	1.00[AFR][1000 genomes]
rs35366909	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35536636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35566323	1.00[AFR][1000 genomes]
rs35707583	1.00[AFR][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35818468	1.00[AFR][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs499885	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558266	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460546	1.00[AFR][1000 genomes]
rs71484411	1.00[AFR][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484440	0.93[AMR][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes]
rs71484445	1.00[AFR][1000 genomes]
rs71484446	1.00[AFR][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs744262	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948722	1.00[AFR][1000 genomes]
rs948723	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57016400-57020800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57016400-57020800	Enhancers	HMEC	breast
3	chr11:57017000-57020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:57017000-57021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:57017000-57021000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:57017200-57023200	Weak transcription	HSMMtube	muscle
7	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain
8	chr11:57017800-57020200	Weak transcription	NHEK	skin
9	chr11:57017800-57020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:57018000-57021200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:57018200-57028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:57019400-57020400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:57019600-57021600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:57019600-57022200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:57019600-57022800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:57019600-57022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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