Variant report

Variant	rs558892195
Chromosome Location	chr13:50799480-50799481
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	chr13:50795214..50796979-chr13:50798701..50801659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv974246	chr13:50798236-50805245	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr13:50795400-50799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:50795800-50800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:50795800-50801000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr13:50796200-50804000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:50797000-50804200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:50797200-50799600	Enhancers	HMEC	breast
7	chr13:50797200-50801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr13:50797200-50801600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:50797200-50802600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:50797200-50802800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:50797400-50799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50797400-50799800	Enhancers	Osteobl	bone
13	chr13:50797400-50800000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:50797400-50800200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:50797600-50801400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:50797600-50802200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:50797800-50799800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:50798200-50801800	Enhancers	GM12878-XiMat	blood
19	chr13:50798600-50800600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:50799000-50799800	Enhancers	Fetal Muscle Leg	muscle
21	chr13:50799000-50800200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:50799000-50801200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr13:50799000-50803800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr13:50799200-50799600	Enhancers	Brain Anterior Caudate	brain
25	chr13:50799200-50799600	Enhancers	HSMMtube	muscle
26	chr13:50799200-50801000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr13:50799400-50799600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:50799400-50800000	Enhancers	Brain Hippocampus Middle	brain
29	chr13:50799400-50800600	Enhancers	HepG2	liver
30	chr13:50799400-50800800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:50799400-50802800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:50799400-50804000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:50799400-50804000	Weak transcription	NH-A	brain

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