Variant report

Variant	rs12586062
Chromosome Location	chr13:51251146-51251147
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	chr13:51218577..51220101-chr13:51250986..51253553,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12585354	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61074977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7318751	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7319618	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7320162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7320693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs797538	0.80[ASN][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51243200-51251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:51245200-51252000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:51246600-51253600	Enhancers	Fetal Thymus	thymus
5	chr13:51247400-51251200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:51247400-51260200	Weak transcription	HepG2	liver
7	chr13:51248000-51253400	Enhancers	Thymus	Thymus
8	chr13:51249600-51251600	Enhancers	Primary B cells from cord blood	blood
9	chr13:51249600-51251800	Enhancers	Fetal Intestine Large	intestine
10	chr13:51249600-51253400	Enhancers	Right Atrium	heart
11	chr13:51249800-51251400	Enhancers	Brain Cingulate Gyrus	brain
12	chr13:51249800-51251400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr13:51249800-51251600	Enhancers	Adipose Nuclei	Adipose
14	chr13:51249800-51251600	Enhancers	Brain Hippocampus Middle	brain
15	chr13:51249800-51251600	Enhancers	Lung	lung
16	chr13:51249800-51251800	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:51249800-51252200	Enhancers	Left Ventricle	heart
18	chr13:51249800-51253400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:51249800-51253400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:51249800-51253400	Enhancers	Fetal Muscle Leg	muscle
21	chr13:51250000-51251400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr13:51250000-51251400	Enhancers	Fetal Intestine Small	intestine
23	chr13:51250000-51252000	Enhancers	HUVEC	blood vessel
24	chr13:51250000-51252600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:51250000-51252800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr13:51250000-51252800	Enhancers	Fetal Lung	lung
27	chr13:51250000-51252800	Enhancers	HSMM	muscle
28	chr13:51250000-51253400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:51250000-51255200	Enhancers	Osteobl	bone
30	chr13:51250000-51256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:51250200-51251600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:51250200-51252400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:51250200-51252400	Enhancers	NH-A	brain
34	chr13:51250200-51252800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:51250200-51252800	Enhancers	Dnd41	blood
36	chr13:51250200-51254000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:51250200-51254400	Enhancers	HSMMtube	muscle
38	chr13:51250400-51251200	Weak transcription	Right Ventricle	heart
39	chr13:51250400-51251400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr13:51250400-51252400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:51250400-51253400	Enhancers	K562	blood
42	chr13:51250400-51253600	Enhancers	NHDF-Ad	bronchial
43	chr13:51250400-51254000	Enhancers	HMEC	breast
44	chr13:51250400-51254400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:51250400-51258400	Weak transcription	Psoas Muscle	Psoas
46	chr13:51250600-51251400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:51250600-51251400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr13:51250600-51251600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr13:51250600-51251600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:51250600-51251800	Enhancers	Gastric	stomach

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