Variant report

Variant	rs113093604
Chromosome Location	chr19:18717264-18717265
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	POLR2A	chr19:18716895-18717751	HepG2	liver:	n/a	n/a
5	MAX	chr19:18716685-18717362	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976
6	ZBTB7A	chr19:18716541-18717420	ECC-1	luminal epithelium:	n/a	chr19:18716546-18716554 chr19:18716946-18716954 chr19:18716935-18716943
7	ZBTB7A	chr19:18717181-18717397	HepG2	liver:	n/a	n/a
8	MAX	chr19:18716141-18717800	HepG2	liver:	n/a	chr19:18717315-18717325 chr19:18716898-18716908 chr19:18716978-18716988 chr19:18716969-18716976 chr19:18716668-18716678
9	GABPA	chr19:18716911-18717349	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr19:18716921-18717412	K562	blood:	n/a	chr19:18716946-18716954 chr19:18716935-18716943
11	GABPA	chr19:18717099-18717439	H1-hESC	embryonic stem cell:	n/a	n/a
12	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	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
3	chr19:18714829..18718349-chr19:18723409..18727026,4	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
ENSG00000167487	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000006016	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:54 , 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	chr19:18714400-18717600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
4	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18715000-18718200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:18715400-18717400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:18715400-18717400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr19:18715400-18718200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr19:18715400-18719000	Active TSS	HSMM	muscle
10	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
11	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
13	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18716400-18717400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:18716400-18717400	Bivalent Enhancer	Spleen	Spleen
16	chr19:18716400-18718000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:18716400-18718200	Bivalent/Poised TSS	Left Ventricle	heart
18	chr19:18716400-18718600	Bivalent/Poised TSS	Psoas Muscle	Psoas
19	chr19:18716600-18717400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:18716600-18717400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr19:18716600-18717400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr19:18716600-18718200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:18716600-18718200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:18716600-18718200	Active TSS	Right Ventricle	heart
25	chr19:18716600-18718600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr19:18716800-18717400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr19:18716800-18717800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr19:18716800-18718600	Enhancers	Primary B cells from cord blood	blood
31	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
32	chr19:18717000-18717400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:18717000-18717600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:18717000-18718000	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr19:18717000-18718400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr19:18717000-18718600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:18717200-18717400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:18717200-18717400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:18717200-18717400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:18717200-18717400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:18717200-18717400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:18717200-18717600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:18717200-18717600	Bivalent/Poised TSS	Thymus	Thymus
44	chr19:18717200-18717800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr19:18717200-18717800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:18717200-18717800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:18717200-18717800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr19:18717200-18717800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr19:18717200-18718000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:18717200-18718000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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