Variant report

Variant	rs7234588
Chromosome Location	chr18:43732510-43732511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43731708..43733511-chr18:43751562..43753758,2	MCF-7	breast:
2	chr18:43731595..43733351-chr18:43739410..43741644,2	MCF-7	breast:
3	chr18:43730544..43733450-chr18:43751342..43753487,2	MCF-7	breast:
4	chr18:43731824..43733616-chr18:43737124..43738884,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11663162	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11875115	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12605796	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12959827	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12970379	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1612622	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618124	0.91[EUR][1000 genomes]
rs1620584	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1620609	0.87[EUR][1000 genomes]
rs1626506	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1632043	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658904	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1658905	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1658906	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658907	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1658908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791400	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791401	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1791406	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1791407	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1791408	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791410	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791411	0.88[ASN][1000 genomes]
rs1791412	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791413	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791414	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791421	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2886001	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35029196	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35211836	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36122010	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4274509	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4315430	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4316847	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6507665	0.87[EUR][1000 genomes]
rs6507667	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507669	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507670	0.83[ASN][1000 genomes]
rs6507675	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7228642	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7242845	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8089015	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8090410	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954565	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
3	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
6	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
8	chr18:43714000-43748400	Weak transcription	Ovary	ovary
9	chr18:43715600-43733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
11	chr18:43724800-43732800	Weak transcription	Pancreas	Pancrea
12	chr18:43728600-43733800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr18:43728600-43735600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:43728600-43735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr18:43728800-43735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr18:43728800-43735600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr18:43729200-43732800	Weak transcription	Stomach Mucosa	stomach
18	chr18:43730000-43732600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr18:43730200-43736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:43730400-43732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:43730400-43734600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:43731600-43732600	Enhancers	HMEC	breast
23	chr18:43731600-43733800	Enhancers	Fetal Muscle Trunk	muscle
24	chr18:43731800-43732600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr18:43731800-43733800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr18:43731800-43733800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr18:43731800-43735600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr18:43732000-43732600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:43732000-43732600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:43732000-43733000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:43732000-43733000	Enhancers	Adipose Nuclei	Adipose
32	chr18:43732000-43733000	Enhancers	Right Ventricle	heart
33	chr18:43732000-43733200	Enhancers	Fetal Thymus	thymus
34	chr18:43732000-43733200	Enhancers	NHLF	lung
35	chr18:43732000-43733400	Enhancers	Esophagus	oesophagus
36	chr18:43732000-43733600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:43732000-43733600	Enhancers	Primary T cells from cord blood	blood
38	chr18:43732000-43733600	Enhancers	NHDF-Ad	bronchial
39	chr18:43732000-43733800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:43732000-43733800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:43732000-43733800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr18:43732000-43733800	Flanking Active TSS	Hela-S3	cervix
43	chr18:43732000-43734000	Enhancers	NH-A	brain
44	chr18:43732000-43734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:43732000-43734200	Enhancers	Fetal Muscle Leg	muscle
46	chr18:43732000-43735600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr18:43732000-43735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:43732000-43735600	Enhancers	Dnd41	blood
49	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr18:43732200-43732800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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