Variant report

Variant	rs11617990
Chromosome Location	chr13:51248448-51248449
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	chr13:51245204..51247127-chr13:51248025..51250990,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12853149	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1641299	0.84[EUR][1000 genomes]
rs17396905	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17396919	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2540525	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71436234	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71436235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71436236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71436237	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs797538	0.84[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51241400-51249800	Weak transcription	Right Ventricle	heart
2	chr13:51243200-51251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:51243400-51249800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:51244800-51249800	Weak transcription	Left Ventricle	heart
5	chr13:51244800-51249800	Weak transcription	Psoas Muscle	Psoas
6	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:51245200-51252000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:51245600-51249000	Weak transcription	Fetal Intestine Large	intestine
9	chr13:51245800-51249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:51245800-51250000	Weak transcription	HUVEC	blood vessel
11	chr13:51246400-51249800	Weak transcription	Adipose Nuclei	Adipose
12	chr13:51246600-51253600	Enhancers	Fetal Thymus	thymus
13	chr13:51246800-51250000	Weak transcription	Fetal Intestine Small	intestine
14	chr13:51246800-51250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:51246800-51250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:51246800-51250600	Weak transcription	NHEK	skin
17	chr13:51247000-51250400	Weak transcription	NHDF-Ad	bronchial
18	chr13:51247200-51250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:51247200-51250000	Weak transcription	Osteobl	bone
20	chr13:51247200-51250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:51247200-51250400	Weak transcription	HMEC	breast
22	chr13:51247200-51250600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:51247200-51250600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:51247400-51250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:51247400-51250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:51247400-51250600	Weak transcription	Pancreas	Pancrea
27	chr13:51247400-51251200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:51247400-51260200	Weak transcription	HepG2	liver
29	chr13:51247600-51249200	Weak transcription	Placenta	Placenta
30	chr13:51247600-51250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:51247600-51250200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:51248000-51253400	Enhancers	Thymus	Thymus
33	chr13:51248200-51249800	Weak transcription	Brain Hippocampus Middle	brain

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