Variant report

Variant	rs2919643
Chromosome Location	chr18:43419003-43419004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43382418..43383012-chr18:43418500..43419065,3	MCF-7	breast:
2	chr18:43317469..43320372-chr18:43417821..43420206,2	MCF-7	breast:
3	chr18:43418723..43420933-chr18:43457769..43459405,2	MCF-7	breast:
4	chr18:43418878..43420998-chr18:43424015..43426139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141469	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10853537	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11082491	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12455488	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12456289	0.82[EUR][1000 genomes]
rs12458195	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12604912	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1660561	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790299	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2958437	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34185907	0.82[EUR][1000 genomes]
rs35316177	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs492411	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs500899	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507653	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs570975	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs571690	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61104666	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7233909	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8083287	0.89[ASN][1000 genomes]
rs8085782	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8095439	0.82[EUR][1000 genomes]
rs8099496	0.82[EUR][1000 genomes]
rs9950673	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9958081	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43412800-43420000	Enhancers	Primary hematopoietic stem cells	blood
2	chr18:43413000-43419600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:43415800-43419600	Enhancers	Spleen	Spleen
4	chr18:43416400-43420000	Bivalent Enhancer	Fetal Thymus	thymus
5	chr18:43417000-43420600	Enhancers	NH-A	brain
6	chr18:43417200-43419200	Bivalent Enhancer	Fetal Brain Male	brain
7	chr18:43417400-43419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr18:43417400-43419200	Flanking Active TSS	Right Ventricle	heart
9	chr18:43417400-43420800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:43417600-43419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:43417800-43419600	Enhancers	Gastric	stomach
12	chr18:43417800-43419600	Enhancers	Pancreas	Pancrea
13	chr18:43417800-43420800	Enhancers	HMEC	breast
14	chr18:43418000-43419200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:43418000-43419200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr18:43418000-43419200	Bivalent Enhancer	NHEK	skin
17	chr18:43418000-43420600	Enhancers	NHDF-Ad	bronchial
18	chr18:43418200-43419200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr18:43418200-43419200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr18:43418200-43419400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr18:43418200-43419400	Bivalent Enhancer	Fetal Heart	heart
22	chr18:43418200-43419600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr18:43418200-43419600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr18:43418200-43419600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:43418200-43419600	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr18:43418200-43420000	Enhancers	NHLF	lung
27	chr18:43418400-43419200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:43418400-43419200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr18:43418400-43419200	Bivalent Enhancer	Thymus	Thymus
30	chr18:43418400-43419600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr18:43418400-43439000	Weak transcription	A549	lung
32	chr18:43418600-43419200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:43418600-43419200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:43418600-43419200	Bivalent Enhancer	Esophagus	oesophagus
35	chr18:43418600-43419200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
36	chr18:43418600-43419200	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr18:43418600-43419400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr18:43418600-43437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:43418800-43419400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr18:43418800-43419400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
41	chr18:43418800-43419400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr18:43418800-43419600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr18:43418800-43420000	Enhancers	Liver	Liver
44	chr18:43419000-43419200	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr18:43419000-43419200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr18:43419000-43419200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:43419000-43419200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:43419000-43419200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:43419000-43419200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:43419000-43419200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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