Variant report

Variant	rs58333825
Chromosome Location	chr19:18718711-18718712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr19:18718094-18718741	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr19:18717719-18718850	ECC-1	luminal epithelium:	n/a	n/a
3	SUZ12	chr19:18717865-18720029	NT2-D1	testis:	n/a	n/a
4	ZNF263	chr19:18718257-18718875	HEK293-T-REx	kidney:	n/a	chr19:18718714-18718723 chr19:18718709-18718730

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18718675-18718725	HNPCEpiC	eye:	n/a
2	chr19:18718675-18718725	Hepatocyte	liver:	n/a
3	chr19:18718675-18718725	PrEC	prostate:	n/a
4	chr19:18718675-18718725	IMR90	lung:	fetal
5	chr19:18718675-18718725	LNCaP	prostate:	n/a
6	chr19:18718675-18718725	T-47D	breast:	n/a
7	chr19:18718675-18718725	AG09309	skin:	n/a
8	chr19:18718675-18718725	Jurkat	blood:	n/a
9	chr19:18718675-18718725	AG04449	skin:	fetal
10	chr19:18718675-18718725	ECC-1	luminal epithelium:	n/a
11	chr19:18718675-18718725	MCF10A-Er-Src	breast:	n/a
12	chr19:18718675-18718725	ProgFib	skin:	n/a
13	chr19:18718675-18718725	HUVEC	blood vessel:	n/a
14	chr19:18718675-18718725	SAEC	small airway:	n/a
15	chr19:18718675-18718725	NH-A	brain:	n/a
16	chr19:18718675-18718725	PANC-1	pancreas:	n/a
17	chr19:18718675-18718725	GM12891	blood:	n/a
18	chr19:18718675-18718725	PFSK-1	brain:	n/a
19	chr19:18718675-18718725	HRPEpiC	eye:	n/a
20	chr19:18718675-18718725	Hela-S3	cervix:	n/a
21	chr19:18718675-18718725	H1-hESC	embryonic stem cell:	embryo
22	chr19:18718675-18718725	AG10803	skin:	n/a
23	chr19:18718675-18718725	MCF-7	breast:	n/a
24	chr19:18718675-18718725	HAEpiC	amniotic membrane:	n/a
25	chr19:18718675-18718725	SK-N-SH_RA	brain:	n/a
26	chr19:18718675-18718725	AG04450	lung:	fetal
27	chr19:18718675-18718725	ovcar-3	ovarian:	n/a
28	chr19:18718675-18718725	HEK293	kidney:	embryo
29	chr19:18718675-18718725	BE2_C	brain:	n/a
30	chr19:18718675-18718725	HRCEpiC	kidney:	n/a
31	chr19:18718675-18718725	HCPEpiC	choroid plexus:	n/a
32	chr19:18718675-18718725	K562	blood:	n/a
33	chr19:18718675-18718725	HepG2	liver:	n/a
34	chr19:18718675-18718725	SKMC	muscle:	n/a
35	chr19:18718675-18718725	HMEC	breast:	n/a
36	chr19:18718675-18718725	AG09319	gingival:	n/a
37	chr19:18718675-18718725	GM12892	blood:	n/a
38	chr19:18718675-18718725	HCF	heart:	n/a
39	chr19:18718675-18718725	BJ	skin:	n/a
40	chr19:18718675-18718725	SK-N-SH	brain:	n/a
41	chr19:18718675-18718725	SK-N-MC	brain:	n/a
42	chr19:18718675-18718725	NB4	blood:	n/a
43	chr19:18718675-18718725	NHDF-neo	bronchial:	n/a
44	chr19:18718675-18718725	HCT-116	colon:	n/a
45	chr19:18718675-18718725	HL-60	blood:	n/a
46	chr19:18718675-18718725	HRE	kidney:	n/a
47	chr19:18718675-18718725	GM06990	blood:	n/a
48	chr19:18718675-18718725	HEEpiC	esophagus:	n/a
49	chr19:18718675-18718725	RPTEC	kidney:	n/a
50	chr19:18718675-18718725	NT2-D1	testis:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
2	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
3	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
4	chr19:18717975..18720331-chr19:18725618..18727812,2	K562	blood:
5	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:

No data

Variant related genes	Relation type
CRLF1	TF binding region
TMEM59L	TF binding region
CRLF1	CpG island
TMEM59L	CpG island
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10419977	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73531616	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv3361838	chr19:18716652-18719275	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1820133	chr19:18717017-18719009	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:18715400-18719000	Active TSS	HSMM	muscle
3	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
4	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
6	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
10	chr19:18717200-18718800	Active TSS	Right Atrium	heart
11	chr19:18717200-18718800	Active TSS	HepG2	liver
12	chr19:18717600-18719000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:18717600-18719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr19:18717600-18719600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr19:18717800-18718800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:18717800-18718800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:18717800-18718800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr19:18717800-18718800	Bivalent/Poised TSS	A549	lung
19	chr19:18717800-18719000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr19:18717800-18719200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr19:18717800-18719200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr19:18718000-18718800	Bivalent Enhancer	Fetal Brain Female	brain
25	chr19:18718000-18718800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr19:18718000-18719000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:18718000-18719000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr19:18718000-18719000	Bivalent Enhancer	Placenta	Placenta
29	chr19:18718000-18719000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr19:18718000-18719400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:18718000-18719400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:18718200-18718800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr19:18718200-18718800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:18718200-18718800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:18718200-18718800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18718200-18718800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:18718200-18718800	Bivalent Enhancer	Brain Angular Gyrus	brain
38	chr19:18718200-18718800	Enhancers	Lung	lung
39	chr19:18718200-18718800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr19:18718200-18718800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr19:18718200-18718800	Bivalent Enhancer	NH-A	brain
42	chr19:18718200-18719000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr19:18718200-18719000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr19:18718200-18719000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr19:18718200-18719000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:18718200-18719000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:18718200-18719200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:18718200-18719200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:18718200-18719200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr19:18718200-18719200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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