Variant report

Variant	rs552022607
Chromosome Location	chr19:18716504-18716505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr19:18716201-18716549	H1-hESC	embryonic stem cell:	n/a	chr19:18716369-18716378
2	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
3	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
4	POLR2A	chr19:18716237-18716867	H1-neurons	neurons:	n/a	n/a
5	MYC	chr19:18716352-18716515	MCF-7	breast:	n/a	n/a
6	SUZ12	chr19:18716185-18716661	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18716499-18716549	GM06990	blood:	n/a
2	chr19:18716499-18716549	GM12878	blood:	n/a
3	chr19:18716499-18716549	PFSK-1	brain:	n/a
4	chr19:18716499-18716549	MCF-7	breast:	n/a
5	chr19:18716499-18716549	AoSMC	blood vessel:	n/a
6	chr19:18716499-18716549	HEK293	kidney:	embryo
7	chr19:18716499-18716549	HIPEpiC	eye:	n/a
8	chr19:18716499-18716549	NH-A	brain:	n/a
9	chr19:18716499-18716549	ECC-1	luminal epithelium:	n/a
10	chr19:18716499-18716549	GM12892	blood:	n/a
11	chr19:18716499-18716549	HUVEC	blood vessel:	n/a
12	chr19:18716499-18716549	SK-N-SH_RA	brain:	n/a
13	chr19:18716499-18716549	Caco-2	colon:	n/a
14	chr19:18716499-18716549	HRPEpiC	eye:	n/a
15	chr19:18716499-18716549	HCF	heart:	n/a
16	chr19:18716499-18716549	Jurkat	blood:	n/a
17	chr19:18716499-18716549	HEEpiC	esophagus:	n/a
18	chr19:18716499-18716549	LNCaP	prostate:	n/a
19	chr19:18716499-18716549	HCM	heart:	n/a
20	chr19:18716499-18716549	HepG2	liver:	n/a
21	chr19:18716499-18716549	NHBE	bronchial:	n/a
22	chr19:18716499-18716549	ProgFib	skin:	n/a
23	chr19:18716499-18716549	SK-N-SH	brain:	n/a
24	chr19:18716499-18716549	GM12891	blood:	n/a
25	chr19:18716499-18716549	SAEC	small airway:	n/a
26	chr19:18716499-18716549	HL-60	blood:	n/a
27	chr19:18716499-18716549	NT2-D1	testis:	n/a
28	chr19:18716499-18716549	HNPCEpiC	eye:	n/a
29	chr19:18716499-18716549	SK-N-MC	brain:	n/a
30	chr19:18716499-18716549	AG09319	gingival:	n/a
31	chr19:18716499-18716549	AG04450	lung:	fetal
32	chr19:18716499-18716549	GM19239	blood:	n/a
33	chr19:18716499-18716549	ovcar-3	ovarian:	n/a
34	chr19:18716499-18716549	HAEpiC	amniotic membrane:	n/a
35	chr19:18716499-18716549	RPTEC	kidney:	n/a
36	chr19:18716499-18716549	HRE	kidney:	n/a
37	chr19:18716499-18716549	HMEC	breast:	n/a
38	chr19:18716499-18716549	BJ	skin:	n/a
39	chr19:18716499-18716549	SKMC	muscle:	n/a
40	chr19:18716499-18716549	CMK	blood:	n/a
41	chr19:18716499-18716549	AG04449	skin:	fetal
42	chr19:18716499-18716549	K562	blood:	n/a
43	chr19:18716499-18716549	MCF10A-Er-Src	breast:	n/a
44	chr19:18716499-18716549	IMR90	lung:	fetal
45	chr19:18716499-18716549	H1-hESC	embryonic stem cell:	embryo
46	chr19:18716499-18716549	HCT-116	colon:	n/a
47	chr19:18716499-18716549	BE2_C	brain:	n/a
48	chr19:18716499-18716549	HCPEpiC	choroid plexus:	n/a
49	chr19:18716499-18716549	Hepatocyte	liver:	n/a
50	chr19:18716499-18716549	HRCEpiC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
2	chr19:18714829..18718349-chr19:18723409..18727026,4	K562	blood:
3	chr19:18713933..18717054-chr19:18723624..18727026,3	K562	blood:
4	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
5	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
6	chr19:18714258..18716711-chr19:18719461..18722423,3	K562	blood:

No data

Variant related genes	Relation type
TMEM59L	TF binding region
TMEM59L	CpG island
ENSG00000105655	Chromatin interaction
ENSG00000105696	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	esv1822476	chr19:18710535-18717425	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3392352	chr19:18715977-18718525	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18713600-18716800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:18714000-18718200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:18714200-18716600	Bivalent Enhancer	Fetal Stomach	stomach
4	chr19:18714200-18717200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:18714400-18716600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
6	chr19:18714400-18716800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:18714400-18717600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
9	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:18714800-18716800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18715000-18717000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:18715400-18717000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr19:18715400-18719000	Active TSS	HSMM	muscle
18	chr19:18715800-18717000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:18715800-18717200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:18716000-18716600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr19:18716000-18716600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:18716000-18716600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr19:18716000-18716600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr19:18716000-18716600	Bivalent/Poised TSS	Right Ventricle	heart
25	chr19:18716000-18717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
27	chr19:18716200-18716600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:18716200-18716600	Bivalent Enhancer	Fetal Heart	heart
29	chr19:18716200-18716600	Bivalent/Poised TSS	Lung	lung
30	chr19:18716200-18716600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr19:18716200-18716600	Bivalent/Poised TSS	NH-A	brain
32	chr19:18716200-18717000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr19:18716200-18717200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:18716200-18717200	Transcr. at gene 5' and 3'	Right Atrium	heart
35	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:18716400-18716600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr19:18716400-18716600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:18716400-18716600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:18716400-18716600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr19:18716400-18716600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
43	chr19:18716400-18716600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:18716400-18716600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:18716400-18716600	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr19:18716400-18716600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr19:18716400-18716600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr19:18716400-18716800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:18716400-18716800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:18716400-18716800	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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