Variant report

Variant	rs191291756
Chromosome Location	chr13:50219600-50219601
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50217461..50219816-chr13:50222701..50225228,2	MCF-7	breast:

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	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50210400-50219600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:50210400-50219600	Weak transcription	Fetal Thymus	thymus
4	chr13:50210400-50219800	Weak transcription	Primary T cells from cord blood	blood
5	chr13:50210400-50224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:50210600-50219600	Weak transcription	Dnd41	blood
7	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:50216400-50219600	Weak transcription	HUVEC	blood vessel
10	chr13:50216400-50224000	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:50216800-50229800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:50217000-50222800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:50217000-50230800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:50217000-50234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
16	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
17	chr13:50217600-50224000	Weak transcription	Lung	lung
18	chr13:50217800-50231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:50217800-50241000	Weak transcription	K562	blood
20	chr13:50218000-50220400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr13:50218000-50220800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:50218000-50221200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr13:50218000-50225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:50218400-50219800	Weak transcription	Primary B cells from cord blood	blood
25	chr13:50218400-50219800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:50218400-50221200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:50218400-50226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:50219600-50220000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr13:50219600-50220000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr13:50219600-50220000	Enhancers	Dnd41	blood
31	chr13:50219600-50220000	Enhancers	HUVEC	blood vessel
32	chr13:50219600-50220200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:50219600-50220200	Enhancers	Fetal Thymus	thymus
34	chr13:50219600-50220400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr13:50219600-50220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:50219600-50220400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr13:50219600-50220400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr13:50219600-50220400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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