Variant report

Variant	rs59955074
Chromosome Location	chr13:51245642-51245643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51245204..51247127-chr13:51248025..51250990,2	MCF-7	breast:
2	chr13:51244981..51247308-chr13:51258200..51260346,2	MCF-7	breast:
3	chr13:51235867..51238606-chr13:51244733..51246390,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56071165	1.00[AMR][1000 genomes]
rs57862685	1.00[AMR][1000 genomes]
rs58716859	1.00[AMR][1000 genomes]
rs59628841	1.00[AMR][1000 genomes]
rs61510431	1.00[AMR][1000 genomes]
rs61619820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485666	1.00[AMR][1000 genomes]
rs73485690	1.00[AMR][1000 genomes]
rs73487855	1.00[AMR][1000 genomes]
rs73487899	1.00[AMR][1000 genomes]
rs73490013	1.00[AMR][1000 genomes]
rs73490019	1.00[AMR][1000 genomes]
rs73490042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492016	1.00[AMR][1000 genomes]
rs73492050	1.00[AMR][1000 genomes]
rs73492077	1.00[AMR][1000 genomes]
rs73492079	1.00[AMR][1000 genomes]
rs73495648	1.00[AMR][1000 genomes]
rs73497575	1.00[AMR][1000 genomes]
rs73497601	1.00[AMR][1000 genomes]
rs74077867	1.00[AMR][1000 genomes]
rs74078134	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7995277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996975	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51241400-51249800	Weak transcription	Right Ventricle	heart
2	chr13:51242000-51245800	Enhancers	Fetal Muscle Leg	muscle
3	chr13:51243200-51251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:51243400-51246000	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:51243400-51249800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:51243800-51247400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:51244800-51245800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:51244800-51245800	Enhancers	HUVEC	blood vessel
9	chr13:51244800-51247400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:51244800-51249800	Weak transcription	Left Ventricle	heart
11	chr13:51244800-51249800	Weak transcription	Psoas Muscle	Psoas
12	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:51245000-51247200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:51245000-51247200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:51245200-51245800	Enhancers	Fetal Stomach	stomach
16	chr13:51245200-51246400	Enhancers	Adipose Nuclei	Adipose
17	chr13:51245200-51246800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:51245200-51246800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:51245200-51246800	Enhancers	Fetal Intestine Small	intestine
20	chr13:51245200-51247000	Enhancers	NHDF-Ad	bronchial
21	chr13:51245200-51247200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:51245200-51247200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:51245200-51247200	Enhancers	Osteobl	bone
24	chr13:51245200-51247400	Enhancers	HepG2	liver
25	chr13:51245200-51247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:51245200-51252000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:51245600-51246000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:51245600-51246600	Weak transcription	Fetal Thymus	thymus
29	chr13:51245600-51246600	Enhancers	Hela-S3	cervix
30	chr13:51245600-51247200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:51245600-51247200	Enhancers	HMEC	breast
32	chr13:51245600-51249000	Weak transcription	Fetal Intestine Large	intestine

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