Variant report

Variant	rs557591516
Chromosome Location	chr19:42916348-42916349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr19:42916074-42916429	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr19:42916334-42917285	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42904315..42908218-chr19:42909528..42916555,10	K562	blood:

Variant related genes	Relation type
LIPE	TF binding region
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
9	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
10	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
11	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
12	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
13	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
14	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv911802	chr19:42915110-42929254	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
4	chr19:42906600-42918600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
6	chr19:42906800-42916600	Strong transcription	Fetal Intestine Small	intestine
7	chr19:42906800-42916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr19:42906800-42924000	Weak transcription	A549	lung
10	chr19:42906800-42924400	Weak transcription	Osteobl	bone
11	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:42907000-42916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
14	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:42907600-42916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:42909000-42925800	Weak transcription	Dnd41	blood
18	chr19:42910400-42924200	Weak transcription	GM12878-XiMat	blood
19	chr19:42911000-42924000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:42911000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:42911200-42923800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:42911600-42923600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:42911800-42918200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:42912200-42925000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:42912400-42917800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr19:42912600-42924000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:42912600-42924200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:42912600-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:42912800-42926200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:42913200-42916600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:42913200-42916800	Genic enhancers	Spleen	Spleen
32	chr19:42913800-42925800	Weak transcription	NHDF-Ad	bronchial
33	chr19:42914000-42916800	Weak transcription	Gastric	stomach
34	chr19:42914000-42923600	Weak transcription	Lung	lung
35	chr19:42914000-42924200	Weak transcription	Pancreas	Pancrea
36	chr19:42914000-42924400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:42914000-42926400	Weak transcription	Ovary	ovary
38	chr19:42914200-42924400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:42914400-42916400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:42914400-42916800	Weak transcription	Right Atrium	heart
41	chr19:42914400-42917200	Weak transcription	Fetal Heart	heart
42	chr19:42914400-42926000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:42914600-42918000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42914600-42918400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:42914600-42918600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:42914800-42916400	Weak transcription	Left Ventricle	heart
47	chr19:42914800-42916600	Strong transcription	NHEK	skin
48	chr19:42915000-42916400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:42915000-42916400	Weak transcription	Right Ventricle	heart
50	chr19:42915000-42916600	Flanking Active TSS	Brain Anterior Caudate	brain

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