Variant report

Variant	rs545144025
Chromosome Location	chr19:42787238-42787239
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	SP1	chr19:42787213-42788471	A549	lung:	n/a	chr19:42788008-42788020 chr19:42788009-42788018 chr19:42787675-42787685 chr19:42788004-42788013 chr19:42787363-42787373 chr19:42788008-42788020
2	EP300	chr19:42787090-42788014	A549	lung:	n/a	n/a
3	MAX	chr19:42787134-42789178	A549	lung:	n/a	chr19:42788533-42788543
4	TBL1XR1	chr19:42787231-42787919	K562	blood:	n/a	n/a
5	ATF2	chr19:42787227-42787993	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:42787197-42787971	HepG2	liver:	n/a	n/a
7	MAZ	chr19:42783745-42790703	IMR90	lung:	n/a	chr19:42790440-42790449 chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
8	MTA3	chr19:42787120-42787769	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:42787032-42788048	U87	brain:	n/a	n/a
10	MAX	chr19:42783361-42789666	A549	lung:	n/a	chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
11	ZBTB33	chr19:42787202-42787881	A549	lung:	n/a	n/a
12	FOXM1	chr19:42787116-42787711	GM12878	blood:	n/a	n/a
13	FOSL2	chr19:42787156-42787896	A549	lung:	n/a	chr19:42787811-42787820
14	POLR2A	chr19:42787166-42788685	H1-neurons	neurons:	n/a	n/a
15	FOSL2	chr19:42787114-42788094	A549	lung:	n/a	chr19:42788006-42788015 chr19:42787811-42787820
16	NFIC	chr19:42787162-42787671	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:42787218-42788024	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:42787157-42787966	GM12892	blood:	n/a	n/a
19	RUNX3	chr19:42787124-42788053	GM12878	blood:	n/a	n/a
20	RELA	chr19:42787168-42787889	GM18951	blood:	n/a	n/a
21	ELF1	chr19:42787223-42787853	A549	lung:	n/a	n/a
22	RCOR1	chr19:42787232-42787642	K562	blood:	n/a	n/a
23	ETS1	chr19:42787112-42787960	A549	lung:	n/a	n/a
24	POLR2A	chr19:42787083-42790049	K562	blood:	n/a	n/a
25	CBX3	chr19:42787175-42787999	K562	blood:	n/a	n/a
26	POLR2A	chr19:42787201-42788565	K562	blood:	n/a	n/a
27	POLR2A	chr19:42786850-42788849	K562	blood:	n/a	n/a
28	POU2F2	chr19:42787035-42788108	GM12891	blood:	n/a	chr19:42788022-42788036 chr19:42788025-42788032 chr19:42788024-42788033 chr19:42788021-42788036 chr19:42788020-42788038 chr19:42788023-42788033 chr19:42788018-42788040 chr19:42788023-42788033 chr19:42787455-42787467 chr19:42788022-42788034 chr19:42788025-42788033 chr19:42788019-42788040 chr19:42788024-42788034 chr19:42788024-42788035
29	POLR2A	chr19:42787190-42789207	GM18505	blood:	n/a	n/a
30	SIX5	chr19:42787103-42787948	A549	lung:	n/a	n/a
31	POLR2A	chr19:42787174-42788139	HUVEC	blood vessel:	n/a	n/a
32	BCLAF1	chr19:42787182-42787829	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:42787207-42788997	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:42786831-42788635	K562	blood:	n/a	n/a
35	NFATC1	chr19:42787193-42788012	GM12878	blood:	n/a	n/a
36	ETS1	chr19:42787048-42788078	A549	lung:	n/a	n/a
37	JUND	chr19:42786986-42788859	A549	lung:	n/a	chr19:42788006-42788015 chr19:42787034-42787043 chr19:42788747-42788756 chr19:42787035-42787044 chr19:42787811-42787820
38	BACH1	chr19:42787212-42787922	K562	blood:	n/a	n/a
39	CREB1	chr19:42787192-42789325	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:42787042-42788631	H1-neurons	neurons:	n/a	n/a
41	MAX	chr19:42787145-42788144	K562	blood:	n/a	n/a
42	POU2F2	chr19:42787167-42788064	GM12891	blood:	n/a	chr19:42788022-42788036 chr19:42788025-42788032 chr19:42788024-42788033 chr19:42788021-42788036 chr19:42788020-42788038 chr19:42788023-42788033 chr19:42788018-42788040 chr19:42788023-42788033 chr19:42787455-42787467 chr19:42788022-42788034 chr19:42788025-42788033 chr19:42788019-42788040 chr19:42788024-42788034 chr19:42788024-42788035
43	POLR2A	chr19:42786091-42788704	K562	blood:	n/a	n/a
44	REST	chr19:42787034-42787978	A549	lung:	n/a	chr19:42787866-42787876 chr19:42787204-42787218
45	POLR2A	chr19:42787029-42788560	GM12878	blood:	n/a	n/a
46	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
47	MAZ	chr19:42787233-42788984	GM12878	blood:	n/a	chr19:42788533-42788543
48	POLR2A	chr19:42785340-42789700	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:42787232-42788899	GM15510	blood:	n/a	n/a
50	POLR2A	chr19:42786049-42789419	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
3	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
4	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
5	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
6	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
7	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
8	chr19:42785237..42787439-chr19:42898347..42900741,2	K562	blood:
9	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
10	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
11	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:

Variant related genes	Relation type
CIC	TF binding region
ENSG00000028277	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000160932	Chromatin interaction
ENSG00000213904	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
8	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
9	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
10	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
11	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
12	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
14	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
21	esv11470	chr19:42786911-42789522	Enhancers Flanking Active TSS Weak transcription 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	13 gene(s)	inside rSNPs	diseases
22	esv3373500	chr19:42786937-42789485	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
23	esv3399835	chr19:42787212-42789685	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42783600-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:42785000-42787400	Enhancers	Liver	Liver
3	chr19:42785000-42787600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:42785200-42787400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:42785200-42787400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr19:42785200-42787400	Enhancers	Lung	lung
7	chr19:42785200-42787400	Enhancers	Pancreas	Pancrea
8	chr19:42785200-42787400	Enhancers	Stomach Mucosa	stomach
9	chr19:42785400-42787600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:42785400-42787800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:42785400-42787800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr19:42785400-42787800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:42785400-42787800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:42785400-42787800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:42785400-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:42785400-42788000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:42785400-42788000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr19:42785600-42787400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:42785600-42787400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42785600-42787400	Enhancers	Primary T cells from cord blood	blood
23	chr19:42785600-42787400	Weak transcription	Ovary	ovary
24	chr19:42785600-42787600	Enhancers	Gastric	stomach
25	chr19:42785600-42787800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:42785600-42787800	Flanking Active TSS	HepG2	liver
27	chr19:42785600-42788000	Flanking Active TSS	Fetal Brain Female	brain
28	chr19:42785800-42787400	Enhancers	Placenta	Placenta
29	chr19:42785800-42787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:42786000-42787400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:42786000-42787400	Enhancers	Fetal Thymus	thymus
32	chr19:42786000-42787400	Enhancers	HMEC	breast
33	chr19:42786000-42787600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:42786000-42787600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:42786200-42787400	Enhancers	Fetal Heart	heart
36	chr19:42786200-42787400	Enhancers	Fetal Intestine Large	intestine
37	chr19:42786200-42787400	Enhancers	Fetal Stomach	stomach
38	chr19:42786200-42787400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr19:42786200-42787400	Enhancers	Right Ventricle	heart
40	chr19:42786400-42787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:42786400-42787400	Enhancers	Colon Smooth Muscle	Colon
42	chr19:42786400-42787400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr19:42786400-42787400	Enhancers	Fetal Intestine Small	intestine
44	chr19:42786400-42787400	Weak transcription	Psoas Muscle	Psoas
45	chr19:42786400-42787400	Enhancers	HUVEC	blood vessel
46	chr19:42786400-42787600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:42786600-42787400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr19:42786600-42787400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:42786600-42787400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:42786600-42787400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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