Variant report

Variant	rs546245311
Chromosome Location	chr19:42689846-42689847
allele	A/C
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	chr19:42689537..42691602-chr19:42692357..42693858,2	K562	blood:
4	chr19:42635897..42638300-chr19:42689525..42691049,2	MCF-7	breast:
5	chr19:42637295..42639499-chr19:42687538..42690053,2	K562	blood:

Variant related genes	Relation type
ENSG00000079432	Chromatin interaction
ENSG00000254887	Chromatin interaction
ENSG00000266226	Chromatin interaction
ENSG00000028277	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:51 , 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	chr19:42687200-42690600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42687400-42690200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:42687800-42690000	Enhancers	Primary B cells from peripheral blood	blood
8	chr19:42687800-42690400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:42688000-42690800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:42688000-42691000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42688200-42690000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:42688200-42690200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:42688200-42690200	Enhancers	Primary T cells from cord blood	blood
14	chr19:42688200-42690200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr19:42688200-42690200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:42688200-42690200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:42688200-42690200	Enhancers	Dnd41	blood
18	chr19:42688200-42691000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:42688200-42691000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:42688400-42690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42688400-42690200	Enhancers	Primary hematopoietic stem cells	blood
22	chr19:42688400-42690200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:42688400-42690200	Enhancers	Thymus	Thymus
24	chr19:42688400-42690200	Enhancers	Spleen	Spleen
25	chr19:42688400-42690800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:42688400-42690800	Enhancers	Fetal Thymus	thymus
27	chr19:42688600-42690000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:42688600-42690000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr19:42688600-42690000	Enhancers	GM12878-XiMat	blood
30	chr19:42688600-42690200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:42688800-42690000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:42688800-42690000	Enhancers	Colonic Mucosa	Colon
33	chr19:42688800-42690000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr19:42688800-42690000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr19:42689000-42695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:42689000-42700400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:42689200-42697400	Weak transcription	HSMMtube	muscle
38	chr19:42689400-42690000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:42689400-42690000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:42689600-42690400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr19:42689600-42690800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:42689800-42693200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:42689800-42693400	Weak transcription	Osteobl	bone
44	chr19:42689800-42695200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:42689800-42695200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:42689800-42695200	Weak transcription	Stomach Mucosa	stomach
47	chr19:42689800-42695400	Weak transcription	NHEK	skin
48	chr19:42689800-42695600	Weak transcription	Placenta	Placenta
49	chr19:42689800-42695800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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