Variant report

Variant	rs373506488
Chromosome Location	chr19:42906571-42906572
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	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
4	chr19:42904602..42907517-chr19:42908247..42910710,2	MCF-7	breast:
5	chr19:42583843..42585623-chr19:42905148..42907036,2	MCF-7	breast:
6	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
16	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
17	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
18	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
19	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
20	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:116 , 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	chr19:42905200-42906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42905200-42906600	Active TSS	Fetal Kidney	kidney
7	chr19:42905200-42906800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:42905200-42906800	Active TSS	A549	lung
9	chr19:42905200-42907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42905400-42906600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:42905400-42906600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:42905400-42906600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:42905400-42906600	Active TSS	Fetal Brain Female	brain
14	chr19:42905400-42906600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr19:42905400-42906800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:42905400-42906800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:42905400-42906800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:42905400-42907000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:42905400-42907000	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:42905600-42906600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:42905600-42906600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:42905600-42906600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:42905600-42906600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:42905600-42906600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr19:42905600-42906600	Active TSS	Brain Cingulate Gyrus	brain
26	chr19:42905600-42906600	Active TSS	Brain Germinal Matrix	brain
27	chr19:42905600-42906600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:42905600-42906600	Active TSS	Brain Substantia Nigra	brain
29	chr19:42905600-42906600	Active TSS	Lung	lung
30	chr19:42905600-42907200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:42905800-42906600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:42905800-42906600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:42905800-42906600	Active TSS	Colon Smooth Muscle	Colon
34	chr19:42905800-42906600	Bivalent/Poised TSS	Thymus	Thymus
35	chr19:42905800-42906800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:42905800-42906800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:42905800-42906800	Active TSS	Esophagus	oesophagus
38	chr19:42906000-42906600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:42906000-42906600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:42906000-42906800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr19:42906000-42906800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:42906000-42906800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr19:42906200-42906600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr19:42906200-42906600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr19:42906200-42906600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr19:42906200-42906600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr19:42906200-42906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr19:42906200-42906600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:42906200-42906600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr19:42906200-42906600	Flanking Active TSS	Fetal Muscle Leg	muscle

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