Variant report

Variant	rs111589486
Chromosome Location	chr19:18496797-18496798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18496721-18498359	K562	blood:	n/a	n/a
2	RCOR1	chr19:18496131-18498156	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:18496720-18497274	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr19:18496304-18498087	IMR90	lung:	n/a	chr19:18496883-18496893
5	MYC	chr19:18496411-18497925	K562	blood:	n/a	chr19:18496883-18496893
6	TBP	chr19:18496796-18497170	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:18496757-18497264	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:18496602-18497352	U87	brain:	n/a	n/a
9	MYBL2	chr19:18496306-18497377	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:18496707-18497340	A549	lung:	n/a	n/a
11	GTF2F1	chr19:18496423-18498128	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:18496793-18497216	HCT-116	colon:	n/a	n/a
13	POLR2A	chr19:18496787-18497187	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFK	chr19:18496454-18497205	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr19:18496666-18497177	HepG2	liver:	n/a	n/a
16	FOXA1	chr19:18496532-18497107	HepG2	liver:	n/a	n/a
17	ARID3A	chr19:18496684-18497192	HepG2	liver:	n/a	n/a
18	HEY1	chr19:18496398-18497219	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:18496570-18502116	PANC-1	pancreas:	n/a	n/a
20	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
21	JUN	chr19:18496748-18497162	K562	blood:	n/a	n/a
22	ZBTB33	chr19:18496720-18497350	HCT-116	colon:	n/a	n/a
23	MAZ	chr19:18496689-18497887	Hela-S3	cervix:	n/a	chr19:18496883-18496893
24	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
25	TCF12	chr19:18496528-18497260	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr19:18496701-18497273	Hela-S3	cervix:	n/a	n/a
27	HDAC2	chr19:18496637-18497248	HepG2	liver:	n/a	chr19:18496872-18496881
28	FOXA1	chr19:18496759-18497027	T-47D	breast:	n/a	n/a
29	JUND	chr19:18496391-18497300	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:18496706-18498218	K562	blood:	n/a	n/a
31	POLR2A	chr19:18496638-18497440	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:18496644-18497513	MCF-7	breast:	n/a	n/a
33	SRF	chr19:18496678-18497151	HepG2	liver:	n/a	n/a
34	NFIC	chr19:18496276-18497257	HepG2	liver:	n/a	n/a
35	JUND	chr19:18496771-18497261	HepG2	liver:	n/a	n/a
36	ZBTB7A	chr19:18496608-18497374	K562	blood:	n/a	chr19:18496804-18496813
37	GATA2	chr19:18496185-18497519	HUVEC	blood vessel:	n/a	n/a
38	SP1	chr19:18496534-18497306	A549	lung:	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
39	POLR2A	chr19:18496339-18498714	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr19:18496769-18497248	GM12891	blood:	n/a	n/a
41	EP300	chr19:18496278-18498015	K562	blood:	n/a	chr19:18497691-18497705 chr19:18496533-18496540 chr19:18496872-18496882
42	MYC	chr19:18496796-18497167	HUVEC	blood vessel:	n/a	chr19:18496883-18496893
43	FOSL2	chr19:18496325-18497309	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:18496202-18502123	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr19:18496258-18501948	HCT-116	colon:	n/a	n/a
46	MXI1	chr19:18496364-18497225	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:18496766-18497435	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr19:18496561-18497643	SK-N-SH	brain:	n/a	n/a
49	MAX	chr19:18496288-18498036	A549	lung:	n/a	chr19:18496883-18496893
50	POLR2A	chr19:18496641-18497297	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18496756-18496806	HRPEpiC	eye:	n/a
2	chr19:18496756-18496806	K562	blood:	n/a
3	chr19:18496756-18496806	HAEpiC	amniotic membrane:	n/a
4	chr19:18496756-18496806	PANC-1	pancreas:	n/a
5	chr19:18496756-18496806	MCF10A-Er-Src	breast:	n/a
6	chr19:18496756-18496806	AG10803	skin:	n/a
7	chr19:18496756-18496806	AG09309	skin:	n/a
8	chr19:18496756-18496806	HepG2	liver:	n/a
9	chr19:18496756-18496806	AG04450	lung:	fetal
10	chr19:18496756-18496806	T-47D	breast:	n/a
11	chr19:18496756-18496806	GM12892	blood:	n/a
12	chr19:18496756-18496806	SK-N-MC	brain:	n/a
13	chr19:18496756-18496806	NB4	blood:	n/a
14	chr19:18496756-18496806	HEEpiC	esophagus:	n/a
15	chr19:18496756-18496806	SK-N-SH	brain:	n/a
16	chr19:18496756-18496806	H1-hESC	embryonic stem cell:	embryo
17	chr19:18496756-18496806	LNCaP	prostate:	n/a
18	chr19:18496756-18496806	NH-A	brain:	n/a
19	chr19:18496756-18496806	SAEC	small airway:	n/a
20	chr19:18496756-18496806	HCT-116	colon:	n/a
21	chr19:18496756-18496806	Jurkat	blood:	n/a
22	chr19:18496756-18496806	HEK293	kidney:	embryo
23	chr19:18496756-18496806	AoSMC	blood vessel:	n/a
24	chr19:18496756-18496806	BE2_C	brain:	n/a
25	chr19:18496756-18496806	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:18496756-18496806	GM19239	blood:	n/a
27	chr19:18496756-18496806	ECC-1	luminal epithelium:	n/a
28	chr19:18496756-18496806	GM12878	blood:	n/a
29	chr19:18496756-18496806	NHBE	bronchial:	n/a
30	chr19:18496756-18496806	NT2-D1	testis:	n/a
31	chr19:18496756-18496806	SKMC	muscle:	n/a
32	chr19:18496756-18496806	HCPEpiC	choroid plexus:	n/a
33	chr19:18496756-18496806	AG04449	skin:	fetal
34	chr19:18496756-18496806	PFSK-1	brain:	n/a
35	chr19:18496756-18496806	MCF-7	breast:	n/a
36	chr19:18496756-18496806	HCM	heart:	n/a
37	chr19:18496756-18496806	NHDF-neo	bronchial:	n/a
38	chr19:18496756-18496806	A549	lung:	n/a
39	chr19:18496756-18496806	GM06990	blood:	n/a
40	chr19:18496756-18496806	ProgFib	skin:	n/a
41	chr19:18496756-18496806	AG09319	gingival:	n/a
42	chr19:18496756-18496806	BJ	skin:	n/a
43	chr19:18496756-18496806	HIPEpiC	eye:	n/a
44	chr19:18496756-18496806	U87	brain:	n/a
45	chr19:18496756-18496806	HCF	heart:	n/a
46	chr19:18496756-18496806	HMEC	breast:	n/a
47	chr19:18496756-18496806	HNPCEpiC	eye:	n/a
48	chr19:18496756-18496806	SK-N-SH_RA	brain:	n/a
49	chr19:18496756-18496806	Hela-S3	cervix:	n/a
50	chr19:18496756-18496806	HUVEC	blood vessel:	n/a

(count:26 , 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	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
17	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
18	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
19	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
20	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
21	chr19:18443925..18446032-chr19:18496432..18498397,2	MCF-7	breast:
22	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
23	chr12:66563193..66563791-chr19:18496498..18497271,2	HCT-116	colon:
24	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
25	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
26	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDF15-1	chr19:18496727-18496882	NONHSAT062964

No data

Variant related genes	Relation type
GDF15	TF binding region
MIR3189	TF binding region
MIR3189	CpG island
GDF15	CpG island
ENSG00000105650	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000155957	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000096996	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:80 , 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	chr19:18488600-18496800	Enhancers	Placenta	Placenta
3	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:18491800-18496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:18491800-18496800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:18491800-18496800	Weak transcription	Colonic Mucosa	Colon
8	chr19:18491800-18496800	Weak transcription	Right Atrium	heart
9	chr19:18491800-18497000	Weak transcription	Lung	lung
10	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
11	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:18495000-18496800	Enhancers	Fetal Intestine Small	intestine
13	chr19:18495200-18496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:18495200-18497000	Enhancers	Fetal Intestine Large	intestine
15	chr19:18495600-18497000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:18495600-18497200	Enhancers	Stomach Mucosa	stomach
17	chr19:18495800-18496800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:18495800-18497000	Enhancers	Liver	Liver
19	chr19:18495800-18497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:18495800-18497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:18496000-18496800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:18496000-18496800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:18496000-18496800	Enhancers	Pancreas	Pancrea
24	chr19:18496000-18496800	Enhancers	HMEC	breast
25	chr19:18496200-18496800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:18496200-18496800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18496200-18496800	Enhancers	Gastric	stomach
28	chr19:18496200-18496800	Enhancers	Small Intestine	intestine
29	chr19:18496200-18496800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr19:18496200-18496800	Flanking Active TSS	A549	lung
31	chr19:18496200-18496800	Flanking Active TSS	Hela-S3	cervix
32	chr19:18496200-18497000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:18496200-18497000	Enhancers	GM12878-XiMat	blood
34	chr19:18496200-18497200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:18496200-18497400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:18496400-18496800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr19:18496400-18496800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:18496400-18496800	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr19:18496400-18496800	Bivalent Enhancer	Colon Smooth Muscle	Colon
40	chr19:18496400-18496800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr19:18496400-18496800	Bivalent Enhancer	Fetal Lung	lung
42	chr19:18496400-18496800	Weak transcription	Spleen	Spleen
43	chr19:18496400-18496800	Flanking Active TSS	HUVEC	blood vessel
44	chr19:18496400-18496800	Flanking Active TSS	K562	blood
45	chr19:18496400-18497000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr19:18496400-18497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr19:18496400-18497000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr19:18496400-18497000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr19:18496400-18497000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr19:18496400-18497000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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