Variant report

Variant	rs577962660
Chromosome Location	chr19:18716891-18716892
allele	A/C
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	CTCF	chr19:18716865-18717069	HepG2	liver:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
2	MAZ	chr19:18716840-18717073	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
3	TAF1	chr19:18716774-18717319	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
5	RAD21	chr19:18716839-18717112	HepG2	liver:	n/a	chr19:18717045-18717059
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	MAX	chr19:18716685-18717362	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
10	ZBTB7A	chr19:18716541-18717420	ECC-1	luminal epithelium:	n/a	chr19:18716546-18716554 chr19:18716946-18716954 chr19:18716935-18716943
11	HDAC2	chr19:18716703-18717222	HepG2	liver:	n/a	chr19:18717166-18717185
12	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
13	POLR2A	chr19:18716886-18717164	HepG2	liver:	n/a	n/a
14	HNF4A	chr19:18716763-18717157	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
15	MYC	chr19:18716837-18717194	HepG2	liver:	n/a	chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
16	CTCF	chr19:18716880-18717030	HepG2	liver:	n/a	chr19:18716940-18716953 chr19:18716976-18716989
17	HNF4A	chr19:18716843-18717191	HepG2	liver:	n/a	chr19:18717013-18717025 chr19:18717011-18717026
18	HNF4G	chr19:18716817-18717093	HepG2	liver:	n/a	chr19:18717013-18717025
19	ZBTB7A	chr19:18716702-18717244	HepG2	liver:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
20	ZBTB7A	chr19:18716765-18717258	ECC-1	luminal epithelium:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
21	SIN3AK20	chr19:18716814-18717085	HepG2	liver:	n/a	n/a
22	YY1	chr19:18716671-18717410	HepG2	liver:	n/a	chr19:18717218-18717232 chr19:18717084-18717095 chr19:18716817-18716831 chr19:18716977-18716986

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	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:59 , 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	chr19:18715000-18717000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18715400-18717000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr19:18715400-18719000	Active TSS	HSMM	muscle
13	chr19:18715800-18717000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:18715800-18717200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:18716000-18717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
17	chr19:18716200-18717000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:18716200-18717200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr19:18716200-18717200	Transcr. at gene 5' and 3'	Right Atrium	heart
20	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
22	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:18716400-18717000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:18716400-18717000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:18716400-18717000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:18716400-18717000	Bivalent/Poised TSS	Esophagus	oesophagus
27	chr19:18716400-18717200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:18716400-18717200	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr19:18716400-18717200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:18716400-18717200	Bivalent Enhancer	Placenta	Placenta
31	chr19:18716400-18717200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:18716400-18717200	Bivalent/Poised TSS	HepG2	liver
33	chr19:18716400-18717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18716400-18717400	Bivalent Enhancer	Spleen	Spleen
35	chr19:18716400-18718000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:18716400-18718200	Bivalent/Poised TSS	Left Ventricle	heart
37	chr19:18716400-18718600	Bivalent/Poised TSS	Psoas Muscle	Psoas
38	chr19:18716600-18717000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:18716600-18717000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:18716600-18717200	Active TSS	Aorta	Aorta
41	chr19:18716600-18717400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:18716600-18717400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr19:18716600-18717400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr19:18716600-18718200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:18716600-18718200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:18716600-18718200	Active TSS	Right Ventricle	heart
47	chr19:18716600-18718600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18716800-18717000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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