Variant report

Variant	rs569322447
Chromosome Location	chr19:18496916-18496917
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	ZNF143	chr19:18496895-18497216	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:18496721-18498359	K562	blood:	n/a	n/a
3	YY1	chr19:18496853-18497104	A549	lung:	n/a	n/a
4	MYC	chr19:18496814-18497151	HepG2	liver:	n/a	chr19:18496883-18496893
5	RCOR1	chr19:18496131-18498156	IMR90	lung:	n/a	n/a
6	POLR2A	chr19:18496811-18497178	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr19:18496720-18497274	HUVEC	blood vessel:	n/a	n/a
8	MAZ	chr19:18496304-18498087	IMR90	lung:	n/a	chr19:18496883-18496893
9	HMGN3	chr19:18496823-18497237	K562	blood:	n/a	n/a
10	MYC	chr19:18496411-18497925	K562	blood:	n/a	chr19:18496883-18496893
11	TBP	chr19:18496796-18497170	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:18496757-18497264	GM12891	blood:	n/a	n/a
13	RAD21	chr19:18496830-18497275	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:18496824-18497187	GM19193	blood:	n/a	n/a
15	POLR2A	chr19:18496602-18497352	U87	brain:	n/a	n/a
16	MYBL2	chr19:18496306-18497377	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:18496707-18497340	A549	lung:	n/a	n/a
18	RAD21	chr19:18496907-18497253	IMR90	lung:	n/a	n/a
19	POLR2A	chr19:18496839-18497278	A549	lung:	n/a	n/a
20	GTF2F1	chr19:18496423-18498128	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr19:18496883-18497177	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:18496793-18497216	HCT-116	colon:	n/a	n/a
23	MAZ	chr19:18496803-18497060	GM12878	blood:	n/a	chr19:18496883-18496893
24	CHD2	chr19:18496840-18497192	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:18496787-18497187	MCF10A-Er-Src	breast:	n/a	n/a
26	MAFK	chr19:18496454-18497205	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr19:18496666-18497177	HepG2	liver:	n/a	n/a
28	E2F4	chr19:18496807-18497304	K562	blood:	n/a	n/a
29	FOXA1	chr19:18496532-18497107	HepG2	liver:	n/a	n/a
30	ARID3A	chr19:18496684-18497192	HepG2	liver:	n/a	n/a
31	HEY1	chr19:18496398-18497219	HepG2	liver:	n/a	n/a
32	TAF1	chr19:18496848-18497124	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr19:18496570-18502116	PANC-1	pancreas:	n/a	n/a
34	GABPA	chr19:18496812-18497292	K562	blood:	n/a	n/a
35	SP1	chr19:18496300-18497219	HepG2	liver:	n/a	chr19:18496847-18496856 chr19:18496845-18496857 chr19:18496845-18496857 chr19:18496885-18496899 chr19:18496846-18496855 chr19:18496895-18496907 chr19:18496846-18496855 chr19:18496892-18496906
36	POLR2A	chr19:18496916-18497132	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUN	chr19:18496748-18497162	K562	blood:	n/a	n/a
38	KAP1	chr19:18496911-18497199	K562	blood:	n/a	n/a
39	ZBTB33	chr19:18496720-18497350	HCT-116	colon:	n/a	n/a
40	MAZ	chr19:18496689-18497887	Hela-S3	cervix:	n/a	chr19:18496883-18496893
41	POLR2A	chr19:18496865-18497144	GM12878	blood:	n/a	n/a
42	REST	chr19:18496800-18497197	PANC-1	pancreas:	n/a	chr19:18496886-18496899
43	HNF4G	chr19:18496391-18497248	HepG2	liver:	n/a	chr19:18496607-18496620 chr19:18496605-18496620 chr19:18496920-18496934 chr19:18496920-18496935 chr19:18496607-18496619 chr19:18496604-18496622 chr19:18496606-18496620 chr19:18496607-18496619 chr19:18496606-18496619 chr19:18496606-18496620 chr19:18496605-18496620 chr19:18496920-18496935 chr19:18496613-18496620
44	TCF12	chr19:18496528-18497260	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr19:18496876-18497202	GM10248	blood:	n/a	n/a
46	POLR2A	chr19:18496701-18497273	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr19:18496857-18497182	GM12891	blood:	n/a	n/a
48	HDAC2	chr19:18496637-18497248	HepG2	liver:	n/a	chr19:18496872-18496881
49	FOXA1	chr19:18496759-18497027	T-47D	breast:	n/a	n/a
50	JUND	chr19:18496391-18497300	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
2	chr19:18207159..18210021-chr19:18495217..18497699,3	K562	blood:
3	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
4	chr19:18466669..18468716-chr19:18495556..18498014,2	MCF-7	breast:
5	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
6	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
7	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
8	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
9	chr19:18334018..18336391-chr19:18495614..18498582,2	K562	blood:
10	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
11	chr19:18466985..18470499-chr19:18496778..18498391,3	K562	blood:
12	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
13	chr19:18495115..18497091-chr19:18555323..18558164,2	MCF-7	breast:
14	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
15	chr19:18496590..18497307-chr3:195808657..195809233,2	HCT-116	colon:
16	chr19:18277732..18279350-chr19:18496912..18498851,2	K562	blood:
17	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
18	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
19	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
20	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
21	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
22	chr19:18443925..18446032-chr19:18496432..18498397,2	MCF-7	breast:
23	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
24	chr12:66563193..66563791-chr19:18496498..18497271,2	HCT-116	colon:
25	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
26	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
27	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:

Variant related genes	Relation type
GDF15	TF binding region
MIR3189	TF binding region
ENSG00000268199	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000155957	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000221167	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription 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 miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:18491800-18497000	Weak transcription	Lung	lung
5	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
6	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:18495200-18497000	Enhancers	Fetal Intestine Large	intestine
8	chr19:18495600-18497000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18495600-18497200	Enhancers	Stomach Mucosa	stomach
10	chr19:18495800-18497000	Enhancers	Liver	Liver
11	chr19:18495800-18497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:18495800-18497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:18496200-18497000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:18496200-18497000	Enhancers	GM12878-XiMat	blood
15	chr19:18496200-18497200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:18496200-18497400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr19:18496400-18497000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr19:18496400-18497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr19:18496400-18497000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr19:18496400-18497000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr19:18496400-18497000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr19:18496400-18497000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr19:18496400-18497000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr19:18496400-18497000	Enhancers	NH-A	brain
25	chr19:18496400-18497000	Enhancers	NHDF-Ad	bronchial
26	chr19:18496400-18497000	Enhancers	NHLF	lung
27	chr19:18496400-18498000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr19:18496400-18498600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:18496400-18499000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:18496600-18497000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr19:18496600-18497000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr19:18496600-18497000	Active TSS	HepG2	liver
37	chr19:18496600-18497000	Enhancers	HSMM	muscle
38	chr19:18496600-18497000	Weak transcription	HSMMtube	muscle
39	chr19:18496600-18497000	Enhancers	NHEK	skin
40	chr19:18496600-18497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:18496600-18497400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:18496600-18497800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr19:18496600-18497800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr19:18496600-18498200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr19:18496600-18498200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:18496800-18497000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:18496800-18497000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:18496800-18497000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:18496800-18497000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr19:18496800-18497000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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