Variant report

Variant	rs113328316
Chromosome Location	chr19:42689371-42689372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42687341..42690027-chr19:42800548..42802977,2	K562	blood:
2	chr19:42687399..42690060-chr19:42770420..42772705,2	K562	blood:
3	chr19:42637295..42639499-chr19:42687538..42690053,2	K562	blood:
4	chr19:42687243..42689479-chr19:42729926..42732337,2	MCF-7	breast:
5	chr19:42612392..42613330-chr19:42688089..42689604,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266226	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000254887	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv275463	chr19:42688997-42700516	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42681800-42703600	Weak transcription	Right Atrium	heart
2	chr19:42686000-42690200	Enhancers	Primary B cells from cord blood	blood
3	chr19:42686000-42691200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:42686600-42690800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:42687200-42689400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:42687200-42690600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:42687400-42690200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:42687800-42690000	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:42687800-42690400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:42688000-42690800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:42688000-42691000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:42688200-42689800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:42688200-42689800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:42688200-42689800	Enhancers	Duodenum Mucosa	Duodenum
15	chr19:42688200-42689800	Enhancers	HSMM	muscle
16	chr19:42688200-42690000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:42688200-42690200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:42688200-42690200	Enhancers	Primary T cells from cord blood	blood
19	chr19:42688200-42690200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr19:42688200-42690200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:42688200-42690200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:42688200-42690200	Enhancers	Dnd41	blood
23	chr19:42688200-42691000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:42688200-42691000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:42688400-42689600	Enhancers	NH-A	brain
26	chr19:42688400-42689800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:42688400-42689800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:42688400-42689800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr19:42688400-42689800	Enhancers	Stomach Mucosa	stomach
30	chr19:42688400-42689800	Enhancers	HMEC	breast
31	chr19:42688400-42689800	Enhancers	NHEK	skin
32	chr19:42688400-42689800	Enhancers	Osteobl	bone
33	chr19:42688400-42690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:42688400-42690200	Enhancers	Primary hematopoietic stem cells	blood
35	chr19:42688400-42690200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:42688400-42690200	Enhancers	Thymus	Thymus
37	chr19:42688400-42690200	Enhancers	Spleen	Spleen
38	chr19:42688400-42690800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:42688400-42690800	Enhancers	Fetal Thymus	thymus
40	chr19:42688600-42689800	Enhancers	Adipose Nuclei	Adipose
41	chr19:42688600-42689800	Enhancers	Placenta	Placenta
42	chr19:42688600-42689800	Enhancers	NHDF-Ad	bronchial
43	chr19:42688600-42690000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:42688600-42690000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:42688600-42690000	Enhancers	GM12878-XiMat	blood
46	chr19:42688600-42690200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:42688800-42689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:42688800-42689800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:42688800-42690000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:42688800-42690000	Enhancers	Colonic Mucosa	Colon

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