Variant report

Variant	rs12155623
Chromosome Location	chr8:49812201-49812202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49776108..49777646-chr8:49810328..49812918,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16939055	0.80[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs34236473	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750259	1.00[YRI][hapmap]
rs7011862	0.81[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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3377959	chr8:49809299-49813497	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Sudden cardiac arrest	21658281	GWAS catalog

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49802000-49814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49808800-49818600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:49809400-49817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:49809800-49814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:49810000-49814800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:49810600-49813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:49811200-49812400	Enhancers	Fetal Heart	heart
8	chr8:49811200-49812600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:49811200-49812600	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:49811400-49812600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:49811400-49812800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:49811400-49812800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:49811400-49812800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:49811400-49812800	Enhancers	NHLF	lung
15	chr8:49811400-49815400	Enhancers	NH-A	brain
16	chr8:49811600-49812400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:49811600-49812400	Enhancers	HMEC	breast
18	chr8:49811600-49812600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:49811600-49812600	Enhancers	HSMMtube	muscle
20	chr8:49811600-49812600	Enhancers	Osteobl	bone
21	chr8:49811600-49812800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:49811600-49812800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:49811600-49812800	Enhancers	Fetal Muscle Leg	muscle
24	chr8:49811600-49813000	Enhancers	HSMM	muscle
25	chr8:49811600-49822000	Weak transcription	Fetal Kidney	kidney
26	chr8:49811800-49812400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:49811800-49812600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:49811800-49812600	Enhancers	Ovary	ovary
29	chr8:49811800-49812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:49811800-49812800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:49811800-49812800	Enhancers	Fetal Stomach	stomach
32	chr8:49811800-49812800	Enhancers	NHDF-Ad	bronchial
33	chr8:49811800-49813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:49812000-49812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:49812000-49812400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:49812000-49812800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:49812000-49812800	Enhancers	Brain Hippocampus Middle	brain
38	chr8:49812000-49813000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:49812000-49814800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:49812200-49812800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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