Variant report

Variant	rs558530804
Chromosome Location	chr19:42926513-42926514
allele	A/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	EGR1	chr19:42926377-42926625	K562	blood:	n/a	n/a
2	POLR2A	chr19:42926472-42928276	Raji	blood:	n/a	n/a
3	RCOR1	chr19:42926314-42926573	K562	blood:	n/a	n/a
4	ELF1	chr19:42926489-42928635	GM12878	blood:	n/a	chr19:42927978-42927990
5	MTA3	chr19:42926179-42928574	GM12878	blood:	n/a	n/a
6	SREBP1	chr19:42926508-42928071	GM12878	blood:	n/a	n/a
7	MAZ	chr19:42926407-42928545	IMR90	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
8	EGR1	chr19:42926365-42926570	K562	blood:	n/a	n/a
9	POLR2A	chr19:42926464-42926760	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42926462-42928671	H1-neurons	neurons:	n/a	n/a
11	PML	chr19:42926332-42928553	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42925339..42926995-chr19:42928878..42931861,2	K562	blood:
2	chr19:42924851..42926943-chr19:42928310..42931390,3	MCF-7	breast:

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000213904	Chromatin interaction
ENSG00000268605	Chromatin interaction
ENSG00000079435	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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS 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	diseases
17	nsv911805	chr19:42919405-42927065	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv911806	chr19:42919405-42928397	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv911807	chr19:42920555-42929254	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers 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
20	nsv579633	chr19:42925636-42929254	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv911808	chr19:42925636-42930652	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:42917400-42926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:42923000-42926600	Enhancers	Spleen	Spleen
4	chr19:42923400-42926800	Enhancers	Fetal Muscle Leg	muscle
5	chr19:42923600-42926600	Enhancers	HMEC	breast
6	chr19:42923600-42926800	Enhancers	Placenta	Placenta
7	chr19:42924000-42926600	Enhancers	Primary T cells from cord blood	blood
8	chr19:42924000-42926600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr19:42924000-42927200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:42924200-42926600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:42924200-42926600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:42924200-42926800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:42924200-42926800	Enhancers	Lung	lung
14	chr19:42924200-42927000	Enhancers	Pancreas	Pancrea
15	chr19:42924400-42926600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:42924400-42926600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:42924400-42926600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:42924400-42926600	Enhancers	Fetal Intestine Large	intestine
19	chr19:42924400-42926800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:42924400-42927200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:42924600-42926600	Weak transcription	K562	blood
22	chr19:42924600-42926800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:42924600-42927000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:42924800-42926600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:42925000-42926600	Weak transcription	NHLF	lung
26	chr19:42925000-42926800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:42925000-42926800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:42925200-42927200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:42925400-42926600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:42925400-42926600	Enhancers	Fetal Muscle Trunk	muscle
31	chr19:42925400-42926600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:42925400-42926600	Enhancers	Thymus	Thymus
33	chr19:42925400-42926800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:42925400-42927200	Enhancers	Hela-S3	cervix
35	chr19:42925400-42927400	Flanking Active TSS	NHEK	skin
36	chr19:42925400-42928400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr19:42925600-42927200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr19:42925600-42927200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr19:42925600-42927400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:42925800-42926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:42925800-42926600	Bivalent Enhancer	HepG2	liver
42	chr19:42925800-42926800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:42925800-42926800	Enhancers	Fetal Brain Male	brain
44	chr19:42925800-42926800	Enhancers	Gastric	stomach
45	chr19:42925800-42926800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr19:42925800-42926800	Enhancers	NHDF-Ad	bronchial
47	chr19:42925800-42927000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr19:42925800-42927000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:42925800-42927000	Enhancers	Stomach Mucosa	stomach
50	chr19:42925800-42927200	Flanking Active TSS	Brain Hippocampus Middle	brain

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