Variant report

Variant	rs184011567
Chromosome Location	chr19:42905942-42905943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
2	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:
3	chr19:42829022..42830328-chr19:42905348..42906313,3	MCF-7	breast:
4	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
5	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
6	chr19:42583843..42585623-chr19:42905148..42907036,2	MCF-7	breast:
7	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268525	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
4	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
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911789	chr19:42901430-42906725	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv911790	chr19:42901430-42908074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911791	chr19:42901430-42909478	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv579630	chr19:42904238-42906383	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
16	nsv911796	chr19:42904388-42906914	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
17	nsv579631	chr19:42904653-42906741	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
18	nsv911797	chr19:42904653-42906914	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
19	nsv579632	chr19:42904653-42912403	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
20	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
21	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42904800-42906800	Enhancers	Fetal Heart	heart
2	chr19:42905000-42906600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr19:42905000-42907000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:42905000-42907000	Enhancers	Spleen	Spleen
5	chr19:42905200-42906000	Enhancers	Adipose Nuclei	Adipose
6	chr19:42905200-42906200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:42905200-42906200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:42905200-42906400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:42905200-42906400	Enhancers	Stomach Mucosa	stomach
10	chr19:42905200-42906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:42905200-42906600	Active TSS	Fetal Kidney	kidney
12	chr19:42905200-42906800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:42905200-42906800	Active TSS	A549	lung
14	chr19:42905200-42907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:42905400-42906000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:42905400-42906200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:42905400-42906200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr19:42905400-42906200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:42905400-42906200	Active TSS	Osteobl	bone
20	chr19:42905400-42906400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:42905400-42906400	Active TSS	Fetal Lung	lung
22	chr19:42905400-42906400	Flanking Active TSS	Dnd41	blood
23	chr19:42905400-42906400	Active TSS	HSMM	muscle
24	chr19:42905400-42906600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:42905400-42906600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:42905400-42906600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:42905400-42906600	Active TSS	Fetal Brain Female	brain
28	chr19:42905400-42906600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr19:42905400-42906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:42905400-42906800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:42905400-42906800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:42905400-42907000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:42905400-42907000	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:42905600-42906000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:42905600-42906000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr19:42905600-42906000	Active TSS	Aorta	Aorta
37	chr19:42905600-42906000	Active TSS	Left Ventricle	heart
38	chr19:42905600-42906000	Active TSS	Small Intestine	intestine
39	chr19:42905600-42906200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr19:42905600-42906200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:42905600-42906200	Active TSS	Primary hematopoietic stem cells	blood
42	chr19:42905600-42906200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:42905600-42906200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr19:42905600-42906200	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:42905600-42906200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr19:42905600-42906200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr19:42905600-42906200	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:42905600-42906200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:42905600-42906200	Active TSS	Brain Angular Gyrus	brain
50	chr19:42905600-42906200	Active TSS	Brain Hippocampus Middle	brain

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