Variant report

Variant	rs12980591
Chromosome Location	chr19:36590168-36590169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36581743..36583448-chr19:36588728..36590795,2	MCF-7	breast:
2	chr19:36587812..36591783-chr19:36604955..36606884,3	MCF-7	breast:
3	chr19:36587137..36590524-chr19:36591113..36595249,3	MCF-7	breast:
4	chr19:36588129..36590741-chr19:36597182..36600281,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105258	Chromatin interaction
ENSG00000105254	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1003470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853945	0.99[ASN][1000 genomes]
rs12982375	1.00[ASN][1000 genomes]
rs1548505	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548506	0.99[ASN][1000 genomes]
rs1972511	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985404	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2051800	0.96[ASN][1000 genomes]
rs2072605	0.99[ASN][1000 genomes]
rs2285745	0.92[ASN][1000 genomes]
rs2301736	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2311004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3746271	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4805160	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806265	0.90[ASN][1000 genomes]
rs4806269	0.94[ASN][1000 genomes]
rs4806270	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6510519	0.85[ASN][1000 genomes]
rs7246292	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757223	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
2	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr19:36555000-36593000	Weak transcription	Fetal Lung	lung
7	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
8	chr19:36561200-36597600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:36561200-36597600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:36561200-36597600	Strong transcription	Dnd41	blood
11	chr19:36561200-36598200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:36561200-36598400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:36561400-36596400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:36561400-36596600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:36563000-36594200	Weak transcription	HSMM	muscle
16	chr19:36566000-36592000	Weak transcription	HMEC	breast
17	chr19:36568600-36598000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:36568800-36594800	Strong transcription	A549	lung
19	chr19:36568800-36601400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:36570000-36598000	Strong transcription	Fetal Thymus	thymus
21	chr19:36571600-36596600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr19:36571800-36591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:36571800-36598400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:36571800-36600000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:36571800-36600600	Strong transcription	Fetal Stomach	stomach
26	chr19:36572000-36598000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:36572400-36602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:36573800-36602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:36574200-36593600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:36574200-36602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:36574400-36592600	Weak transcription	HUVEC	blood vessel
32	chr19:36574600-36604400	Weak transcription	NHDF-Ad	bronchial
33	chr19:36575400-36604200	Weak transcription	Primary B cells from cord blood	blood
34	chr19:36580000-36590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:36580400-36594800	Weak transcription	Primary T cells from cord blood	blood
36	chr19:36581200-36593600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:36581600-36590200	Weak transcription	Fetal Brain Female	brain
38	chr19:36581600-36592200	Weak transcription	Fetal Intestine Large	intestine
39	chr19:36581800-36594200	Weak transcription	K562	blood
40	chr19:36582200-36590200	Weak transcription	Spleen	Spleen
41	chr19:36583400-36598000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36583800-36594400	Weak transcription	Placenta	Placenta
43	chr19:36584200-36590200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:36584200-36593800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:36584600-36590200	Weak transcription	Right Ventricle	heart
46	chr19:36584600-36594000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:36585000-36590200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:36585000-36590400	Weak transcription	Right Atrium	heart
49	chr19:36585000-36592200	Weak transcription	Gastric	stomach
50	chr19:36585000-36595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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