Variant report

Variant	rs201445214
Chromosome Location	chr19:18497005-18497006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:473)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	MYC	chr19:18496992-18497142	K562	blood:	n/a	n/a
7	CTCF	chr19:18497000-18497150	GM12866	blood:	n/a	n/a
8	POLR2A	chr19:18496811-18497178	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr19:18497000-18497150	GM12875	blood:	n/a	n/a
10	CTCF	chr19:18496980-18497130	AG04449	skin:	n/a	n/a
11	POLR2A	chr19:18496720-18497274	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr19:18496949-18497197	GM10266	blood:	n/a	n/a
13	YY1	chr19:18496919-18497175	GM12891	blood:	n/a	n/a
14	CTCF	chr19:18496960-18497110	NHDF-neo	bronchial:	n/a	n/a
15	MAZ	chr19:18496304-18498087	IMR90	lung:	n/a	chr19:18496883-18496893
16	CTCFL	chr19:18496936-18497183	K562	blood:	n/a	n/a
17	HMGN3	chr19:18496823-18497237	K562	blood:	n/a	n/a
18	MYC	chr19:18496411-18497925	K562	blood:	n/a	chr19:18496883-18496893
19	CTCF	chr19:18496980-18497130	AoAF	blood vessel:	n/a	n/a
20	TBP	chr19:18496796-18497170	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:18496757-18497264	GM12891	blood:	n/a	n/a
22	RAD21	chr19:18496830-18497275	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:18496824-18497187	GM19193	blood:	n/a	n/a
24	POLR2A	chr19:18496602-18497352	U87	brain:	n/a	n/a
25	MYBL2	chr19:18496306-18497377	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:18496707-18497340	A549	lung:	n/a	n/a
27	RAD21	chr19:18496907-18497253	IMR90	lung:	n/a	n/a
28	POLR2A	chr19:18496839-18497278	A549	lung:	n/a	n/a
29	GTF2F1	chr19:18496423-18498128	Hela-S3	cervix:	n/a	n/a
30	GTF2F1	chr19:18496883-18497177	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr19:18496920-18497188	Pancreas_OC	pancreas:	n/a	n/a
32	POLR2A	chr19:18496793-18497216	HCT-116	colon:	n/a	n/a
33	CTCF	chr19:18496953-18497191	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr19:18496803-18497060	GM12878	blood:	n/a	chr19:18496883-18496893
35	CHD2	chr19:18496840-18497192	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:18496787-18497187	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr19:18496980-18497130	NB4	blood:	n/a	n/a
38	MAFK	chr19:18496454-18497205	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr19:18496666-18497177	HepG2	liver:	n/a	n/a
40	E2F4	chr19:18496807-18497304	K562	blood:	n/a	n/a
41	FOXA1	chr19:18496532-18497107	HepG2	liver:	n/a	n/a
42	ARID3A	chr19:18496684-18497192	HepG2	liver:	n/a	n/a
43	HEY1	chr19:18496398-18497219	HepG2	liver:	n/a	n/a
44	TAF1	chr19:18496848-18497124	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr19:18496570-18502116	PANC-1	pancreas:	n/a	n/a
46	GABPA	chr19:18496812-18497292	K562	blood:	n/a	n/a
47	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
48	POLR2A	chr19:18496916-18497132	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:18496960-18497110	GM12873	blood:	n/a	n/a
50	JUN	chr19:18496748-18497162	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18496984-18497034	NB4	blood:	n/a
2	chr19:18496984-18497034	HUVEC	blood vessel:	n/a
3	chr19:18496984-18497034	NHDF-neo	bronchial:	n/a
4	chr19:18496984-18497034	CMK	blood:	n/a
5	chr19:18496984-18497034	HCT-116	colon:	n/a
6	chr19:18496984-18497034	MCF10A-Er-Src	breast:	n/a
7	chr19:18496984-18497034	PFSK-1	brain:	n/a
8	chr19:18496984-18497034	HAEpiC	amniotic membrane:	n/a
9	chr19:18496984-18497034	AoSMC	blood vessel:	n/a
10	chr19:18496984-18497034	SKMC	muscle:	n/a
11	chr19:18496984-18497034	MCF-7	breast:	n/a
12	chr19:18496984-18497034	BJ	skin:	n/a
13	chr19:18496984-18497034	PANC-1	pancreas:	n/a
14	chr19:18496984-18497034	HNPCEpiC	eye:	n/a
15	chr19:18496984-18497034	AG09319	gingival:	n/a
16	chr19:18496984-18497034	AG04450	lung:	fetal
17	chr19:18496984-18497034	SK-N-SH	brain:	n/a
18	chr19:18496984-18497034	HIPEpiC	eye:	n/a
19	chr19:18496984-18497034	GM12891	blood:	n/a
20	chr19:18496984-18497034	ECC-1	luminal epithelium:	n/a
21	chr19:18496984-18497034	ovcar-3	ovarian:	n/a
22	chr19:18496984-18497034	HEK293	kidney:	embryo
23	chr19:18496984-18497034	HRPEpiC	eye:	n/a
24	chr19:18496984-18497034	H1-hESC	embryonic stem cell:	embryo
25	chr19:18496984-18497034	IMR90	lung:	fetal
26	chr19:18496984-18497034	A549	lung:	n/a
27	chr19:18496984-18497034	AG10803	skin:	n/a
28	chr19:18496984-18497034	PrEC	prostate:	n/a
29	chr19:18496984-18497034	HEEpiC	esophagus:	n/a
30	chr19:18496984-18497034	GM12878	blood:	n/a
31	chr19:18496984-18497034	NH-A	brain:	n/a
32	chr19:18496984-18497034	Hela-S3	cervix:	n/a
33	chr19:18496984-18497034	Jurkat	blood:	n/a
34	chr19:18496984-18497034	HCPEpiC	choroid plexus:	n/a
35	chr19:18496984-18497034	U87	brain:	n/a
36	chr19:18496984-18497034	GM12892	blood:	n/a
37	chr19:18496984-18497034	ProgFib	skin:	n/a
38	chr19:18496984-18497034	SK-N-SH_RA	brain:	n/a
39	chr19:18496984-18497034	HL-60	blood:	n/a
40	chr19:18496984-18497034	SK-N-MC	brain:	n/a
41	chr19:18496984-18497034	RPTEC	kidney:	n/a
42	chr19:18496984-18497034	HCM	heart:	n/a
43	chr19:18496984-18497034	HRCEpiC	kidney:	n/a
44	chr19:18496984-18497034	K562	blood:	n/a
45	chr19:18496984-18497034	GM19239	blood:	n/a
46	chr19:18496984-18497034	HMEC	breast:	n/a
47	chr19:18496984-18497034	Caco-2	colon:	n/a
48	chr19:18496984-18497034	HCF	heart:	n/a
49	chr19:18496984-18497034	AG09309	skin:	n/a
50	chr19:18496984-18497034	BE2_C	brain:	n/a

(count:27 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
GDF15	TF binding region
MIR3189	TF binding region
MIR3189	CpG island
GDF15	CpG island
ENSG00000105655	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000155957	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000099308	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	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
5	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:18495600-18497200	Enhancers	Stomach Mucosa	stomach
7	chr19:18495800-18497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:18495800-18497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:18496200-18497200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:18496200-18497400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr19:18496400-18498000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr19:18496400-18498600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:18496400-18499000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:18496600-18497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:18496600-18497400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:18496600-18497800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr19:18496600-18497800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr19:18496600-18498200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr19:18496600-18498200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:18496800-18497200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:18496800-18497200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:18496800-18497200	Enhancers	Ovary	ovary
27	chr19:18496800-18497400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:18496800-18497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:18496800-18497400	Active TSS	Duodenum Mucosa	Duodenum
30	chr19:18496800-18497400	Weak transcription	Small Intestine	intestine
31	chr19:18496800-18497400	Enhancers	Spleen	Spleen
32	chr19:18496800-18497400	Active TSS	Hela-S3	cervix
33	chr19:18496800-18497400	Active TSS	HUVEC	blood vessel
34	chr19:18496800-18497400	Active TSS	Osteobl	bone
35	chr19:18496800-18497600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:18496800-18497600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:18496800-18497800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr19:18496800-18497800	Strong transcription	Right Atrium	heart
39	chr19:18496800-18498000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:18496800-18498000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr19:18496800-18498000	Active TSS	Colon Smooth Muscle	Colon
42	chr19:18496800-18498000	Flanking Active TSS	Pancreas	Pancrea
43	chr19:18496800-18498000	Flanking Active TSS	HMEC	breast
44	chr19:18496800-18498200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:18496800-18499000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr19:18496800-18499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:18496800-18499400	Active TSS	A549	lung
48	chr19:18496800-18499600	Active TSS	K562	blood
49	chr19:18497000-18497200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:18497000-18497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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