Variant report

Variant	rs538781597
Chromosome Location	chr19:18718258-18718259
allele	G/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	POLR2A	chr19:18716009-18718542	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr19:18718027-18718567	ECC-1	luminal epithelium:	n/a	n/a
3	BACH1	chr19:18718171-18718685	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr19:18718094-18718741	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:18718040-18718455	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr19:18718066-18718415	H1-neurons	neurons:	n/a	n/a
7	ZBTB7A	chr19:18717719-18718850	ECC-1	luminal epithelium:	n/a	n/a
8	SUZ12	chr19:18717865-18720029	NT2-D1	testis:	n/a	n/a
9	ZNF263	chr19:18718257-18718875	HEK293-T-REx	kidney:	n/a	chr19:18718714-18718723 chr19:18718709-18718730
10	HDAC2	chr19:18718069-18718602	HepG2	liver:	n/a	chr19:18718230-18718244 chr19:18718231-18718245 chr19:18718234-18718248

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	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
4	chr19:18714829..18718349-chr19:18723409..18727026,4	K562	blood:
5	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
6	chr19:18717975..18720331-chr19:18725618..18727812,2	K562	blood:
7	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:

Variant related genes	Relation type
CRLF1	TF binding region
ENSG00000006016	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105696	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	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
15	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
16	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18714400-18718400	Active TSS	HSMMtube	muscle
2	chr19:18714400-18719000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:18715400-18719000	Active TSS	HSMM	muscle
4	chr19:18716000-18718800	Bivalent/Poised TSS	Osteobl	bone
5	chr19:18716200-18718800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr19:18716200-18718800	Bivalent Enhancer	Colonic Mucosa	Colon
7	chr19:18716200-18719000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:18716400-18718600	Bivalent/Poised TSS	Psoas Muscle	Psoas
9	chr19:18716600-18718600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18716600-18718800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:18716600-18719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr19:18716800-18718600	Enhancers	Primary B cells from cord blood	blood
13	chr19:18716800-18719000	Enhancers	Pancreas	Pancrea
14	chr19:18717000-18718400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:18717000-18718600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:18717200-18718800	Active TSS	Right Atrium	heart
17	chr19:18717200-18718800	Active TSS	HepG2	liver
18	chr19:18717600-18719000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:18717600-18719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr19:18717600-18719600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr19:18717800-18718400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr19:18717800-18718400	Bivalent Enhancer	Liver	Liver
23	chr19:18717800-18718400	Bivalent Enhancer	Brain Substantia Nigra	brain
24	chr19:18717800-18718400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr19:18717800-18718400	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr19:18717800-18718400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
27	chr19:18717800-18718600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:18717800-18718600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr19:18717800-18718600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:18717800-18718800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:18717800-18718800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:18717800-18718800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr19:18717800-18718800	Bivalent/Poised TSS	A549	lung
34	chr19:18717800-18719000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:18717800-18719000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr19:18717800-18719200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr19:18717800-18719200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr19:18718000-18718400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:18718000-18718400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:18718000-18718400	Bivalent Enhancer	Ovary	ovary
42	chr19:18718000-18718400	Bivalent Enhancer	HUVEC	blood vessel
43	chr19:18718000-18718600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:18718000-18718600	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr19:18718000-18718800	Bivalent Enhancer	Fetal Brain Female	brain
46	chr19:18718000-18718800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr19:18718000-18719000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:18718000-18719000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr19:18718000-18719000	Bivalent Enhancer	Placenta	Placenta
50	chr19:18718000-18719000	Bivalent Enhancer	Fetal Stomach	stomach

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