Variant report

Variant	rs550642883
Chromosome Location	chr19:18717130-18717131
allele	C/T
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	HEY1	chr19:18716909-18717268	HepG2	liver:	n/a	chr19:18717219-18717234
2	TAF1	chr19:18716774-18717319	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
4	MAX	chr19:18716950-18717158	HepG2	liver:	n/a	chr19:18716978-18716988 chr19:18716969-18716976
5	SUZ12	chr19:18716967-18717191	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPD	chr19:18716724-18717146	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr19:18716663-18717168	HepG2	liver:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
8	HEY1	chr19:18716781-18717239	HepG2	liver:	n/a	chr19:18717219-18717234 chr19:18716875-18716890 chr19:18716887-18716902 chr19:18716863-18716878
9	POLR2A	chr19:18716895-18717751	HepG2	liver:	n/a	n/a
10	MAX	chr19:18716685-18717362	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
11	ZBTB7A	chr19:18716541-18717420	ECC-1	luminal epithelium:	n/a	chr19:18716546-18716554 chr19:18716946-18716954 chr19:18716935-18716943
12	HDAC2	chr19:18716703-18717222	HepG2	liver:	n/a	chr19:18717166-18717185
13	POLR2A	chr19:18716943-18717203	HepG2	liver:	n/a	n/a
14	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
15	POLR2A	chr19:18716886-18717164	HepG2	liver:	n/a	n/a
16	GABPA	chr19:18716911-18717349	H1-hESC	embryonic stem cell:	n/a	n/a
17	HNF4A	chr19:18716763-18717157	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
18	MYC	chr19:18716837-18717194	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
19	ZBTB7A	chr19:18716921-18717412	K562	blood:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
20	HNF4A	chr19:18716843-18717191	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
21	ZBTB7A	chr19:18716702-18717244	HepG2	liver:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
22	ZBTB7A	chr19:18716765-18717258	ECC-1	luminal epithelium:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
23	POLR2A	chr19:18716926-18717233	HepG2	liver:	n/a	n/a
24	GABPA	chr19:18717099-18717439	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr19:18716671-18717410	HepG2	liver:	n/a	chr19:18717218-18717232 chr19:18717084-18717095 chr19:18716817-18716831 chr19:18716977-18716986

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18717080-18717130	GM19239	blood:	n/a
2	chr19:18717080-18717130	BJ	skin:	n/a
3	chr19:18717080-18717130	HRE	kidney:	n/a
4	chr19:18717080-18717130	ovcar-3	ovarian:	n/a
5	chr19:18717080-18717130	RPTEC	kidney:	n/a
6	chr19:18717080-18717130	Hela-S3	cervix:	n/a
7	chr19:18717080-18717130	IMR90	lung:	fetal
8	chr19:18717080-18717130	T-47D	breast:	n/a
9	chr19:18717080-18717130	U87	brain:	n/a
10	chr19:18717080-18717130	A549	lung:	n/a
11	chr19:18717080-18717130	GM06990	blood:	n/a
12	chr19:18717080-18717130	NH-A	brain:	n/a
13	chr19:18717080-18717130	HMEC	breast:	n/a
14	chr19:18717080-18717130	Jurkat	blood:	n/a
15	chr19:18717080-18717130	HAEpiC	amniotic membrane:	n/a
16	chr19:18717080-18717130	ECC-1	luminal epithelium:	n/a
17	chr19:18717080-18717130	PANC-1	pancreas:	n/a
18	chr19:18717080-18717130	GM12878	blood:	n/a
19	chr19:18717080-18717130	NB4	blood:	n/a
20	chr19:18717080-18717130	HCM	heart:	n/a
21	chr19:18717080-18717130	GM12891	blood:	n/a
22	chr19:18717080-18717130	AG04449	skin:	fetal
23	chr19:18717080-18717130	HEEpiC	esophagus:	n/a
24	chr19:18717080-18717130	AG09309	skin:	n/a
25	chr19:18717080-18717130	MCF10A-Er-Src	breast:	n/a
26	chr19:18717080-18717130	HIPEpiC	eye:	n/a
27	chr19:18717080-18717130	SAEC	small airway:	n/a
28	chr19:18717080-18717130	PrEC	prostate:	n/a
29	chr19:18717080-18717130	H1-hESC	embryonic stem cell:	embryo
30	chr19:18717080-18717130	MCF-7	breast:	n/a
31	chr19:18717080-18717130	AG09319	gingival:	n/a
32	chr19:18717080-18717130	HepG2	liver:	n/a
33	chr19:18717080-18717130	K562	blood:	n/a
34	chr19:18717080-18717130	SK-N-SH	brain:	n/a
35	chr19:18717080-18717130	NHBE	bronchial:	n/a
36	chr19:18717080-18717130	HCF	heart:	n/a
37	chr19:18717080-18717130	LNCaP	prostate:	n/a
38	chr19:18717080-18717130	CMK	blood:	n/a
39	chr19:18717080-18717130	NHDF-neo	bronchial:	n/a
40	chr19:18717080-18717130	HUVEC	blood vessel:	n/a
41	chr19:18717080-18717130	HCPEpiC	choroid plexus:	n/a
42	chr19:18717080-18717130	HRCEpiC	kidney:	n/a
43	chr19:18717080-18717130	HEK293	kidney:	embryo
44	chr19:18717080-18717130	PFSK-1	brain:	n/a
45	chr19:18717080-18717130	Hepatocyte	liver:	n/a
46	chr19:18717080-18717130	HCT-116	colon:	n/a
47	chr19:18717080-18717130	AG04450	lung:	fetal
48	chr19:18717080-18717130	SK-N-MC	brain:	n/a
49	chr19:18717080-18717130	AoSMC	blood vessel:	n/a
50	chr19:18717080-18717130	HPAEpiC	pulmonary alveolar:	n/a

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	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
4	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
5	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:

Variant related genes	Relation type
TMEM59L	TF binding region
TMEM59L	CpG island
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105655	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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
16	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
17	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
18	esv9977	chr19:18717041-18717785	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18714000-18718200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:18714200-18717200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:18714400-18717600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
5	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr19:18715400-18719000	Active TSS	HSMM	muscle
11	chr19:18715800-18717200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:18716000-18717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
14	chr19:18716200-18717200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:18716200-18717200	Transcr. at gene 5' and 3'	Right Atrium	heart
16	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:18716400-18717200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:18716400-18717200	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr19:18716400-18717200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:18716400-18717200	Bivalent Enhancer	Placenta	Placenta
23	chr19:18716400-18717200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:18716400-18717200	Bivalent/Poised TSS	HepG2	liver
25	chr19:18716400-18717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:18716400-18717400	Bivalent Enhancer	Spleen	Spleen
27	chr19:18716400-18718000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18716400-18718200	Bivalent/Poised TSS	Left Ventricle	heart
29	chr19:18716400-18718600	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr19:18716600-18717200	Active TSS	Aorta	Aorta
31	chr19:18716600-18717400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:18716600-18717400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr19:18716600-18717400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr19:18716600-18718200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:18716600-18718200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:18716600-18718200	Active TSS	Right Ventricle	heart
37	chr19:18716600-18718600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr19:18716800-18717200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:18716800-18717200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr19:18716800-18717200	Bivalent Enhancer	A549	lung
43	chr19:18716800-18717400	Bivalent Enhancer	Fetal Brain Male	brain
44	chr19:18716800-18717800	Bivalent Enhancer	Fetal Stomach	stomach
45	chr19:18716800-18718600	Enhancers	Primary B cells from cord blood	blood
46	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
47	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:18717000-18717200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:18717000-18717200	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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