Variant report

Variant	rs59453232
Chromosome Location	chr5:60382002-60382003
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	chr17:59475149..59477849-chr5:60380632..60382365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10452451	1.00[AFR][1000 genomes]
rs16878535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878537	1.00[AMR][1000 genomes]
rs16878539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647074	1.00[AMR][1000 genomes]
rs4647116	1.00[AMR][1000 genomes]
rs55638584	1.00[AMR][1000 genomes]
rs55659107	1.00[AMR][1000 genomes]
rs56020025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043434	1.00[AMR][1000 genomes]
rs56071223	1.00[AMR][1000 genomes]
rs56113732	1.00[AMR][1000 genomes]
rs56132498	0.97[AFR][1000 genomes]
rs56256328	1.00[AMR][1000 genomes]
rs56287212	1.00[AMR][1000 genomes]
rs56306823	1.00[AMR][1000 genomes]
rs56320246	1.00[AMR][1000 genomes]
rs56386934	1.00[AMR][1000 genomes]
rs57108975	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57366470	1.00[AMR][1000 genomes]
rs58096884	0.89[AFR][1000 genomes]
rs58859855	0.83[AFR][1000 genomes]
rs58930565	1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6869855	1.00[AMR][1000 genomes]
rs6870631	1.00[AMR][1000 genomes]
rs6885974	1.00[AMR][1000 genomes]
rs73759432	1.00[AMR][1000 genomes]
rs73759434	1.00[AMR][1000 genomes]
rs73759435	1.00[AMR][1000 genomes]
rs73759437	1.00[AMR][1000 genomes]
rs73759441	1.00[AMR][1000 genomes]
rs73759445	1.00[AMR][1000 genomes]
rs73759446	1.00[AMR][1000 genomes]
rs73759447	1.00[AMR][1000 genomes]
rs73759450	1.00[AMR][1000 genomes]
rs73759452	1.00[AMR][1000 genomes]
rs73759454	1.00[AMR][1000 genomes]
rs73759455	1.00[AMR][1000 genomes]
rs73759456	1.00[AMR][1000 genomes]
rs73759457	1.00[AMR][1000 genomes]
rs73759458	1.00[AMR][1000 genomes]
rs73759459	1.00[AMR][1000 genomes]
rs73759461	1.00[AMR][1000 genomes]
rs73759468	1.00[AMR][1000 genomes]
rs73759469	1.00[AMR][1000 genomes]
rs73759470	1.00[AMR][1000 genomes]
rs73759471	1.00[AMR][1000 genomes]
rs73759475	1.00[AMR][1000 genomes]
rs7701959	1.00[AMR][1000 genomes]
rs7717284	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60350800-60396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:60365600-60387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:60366400-60397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:60367200-60382200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:60367400-60385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:60367400-60386800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:60367400-60399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:60367600-60398400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:60367800-60403800	Weak transcription	Primary B cells from cord blood	blood
11	chr5:60368200-60390600	Weak transcription	Fetal Intestine Small	intestine
12	chr5:60368200-60397600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:60368200-60402000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:60368400-60390200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:60369000-60400200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:60369400-60388200	Weak transcription	Gastric	stomach
17	chr5:60369800-60396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:60370200-60395600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:60371400-60382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:60371600-60398000	Weak transcription	HSMM	muscle
21	chr5:60371800-60387400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:60373200-60387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:60373200-60395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:60374200-60384200	Weak transcription	GM12878-XiMat	blood
25	chr5:60378800-60395600	Weak transcription	Primary T cells from cord blood	blood
26	chr5:60378800-60403400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:60379400-60395600	Weak transcription	Ovary	ovary
28	chr5:60379400-60403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:60380400-60383600	Weak transcription	Hela-S3	cervix
30	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:60381200-60387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:60381400-60397600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:60381600-60387400	Weak transcription	Primary hematopoietic stem cells	blood

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