Variant report

Variant	rs7227508
Chromosome Location	chr18:43616784-43616785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11082509	1.00[CHB][hapmap]
rs12954944	1.00[CHB][hapmap]
rs13381709	1.00[CHB][hapmap]
rs1800637	1.00[CHB][hapmap]
rs1800639	1.00[CHB][hapmap]
rs1800640	1.00[CHB][hapmap]
rs2298787	1.00[CHB][hapmap]
rs3765636	1.00[CHB][hapmap]
rs7231846	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244921	1.00[CHB][hapmap]
rs8088881	1.00[CHB][hapmap]
rs8089150	1.00[CHB][hapmap]
rs8092674	1.00[CHB][hapmap]
rs8095608	1.00[CHB][hapmap]
rs9783886	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7227508	ATP5A1	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43571400-43622000	Weak transcription	Gastric	stomach
2	chr18:43601000-43619000	Weak transcription	K562	blood
3	chr18:43608600-43617400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:43608600-43619000	Weak transcription	Right Ventricle	heart
5	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
6	chr18:43608800-43619800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr18:43608800-43620000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr18:43608800-43620400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr18:43608800-43620600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:43608800-43620600	Weak transcription	Placenta	Placenta
11	chr18:43608800-43631800	Weak transcription	NHLF	lung
12	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
13	chr18:43609000-43617400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:43609000-43617400	Weak transcription	Liver	Liver
15	chr18:43609000-43617600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:43609000-43618400	Weak transcription	Primary T cells from cord blood	blood
17	chr18:43609000-43619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr18:43609000-43619800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr18:43609000-43620000	Weak transcription	Lung	lung
20	chr18:43609000-43620000	Weak transcription	Ovary	ovary
21	chr18:43609000-43622200	Weak transcription	Brain Hippocampus Middle	brain
22	chr18:43609000-43622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr18:43609000-43622200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:43609000-43622200	Weak transcription	Thymus	Thymus
25	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:43609200-43620000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:43609200-43620200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr18:43609600-43620000	Weak transcription	Fetal Intestine Large	intestine
30	chr18:43609800-43618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
32	chr18:43611200-43617400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr18:43612000-43619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:43612200-43620400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr18:43613200-43622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:43613600-43620800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:43614200-43617400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:43614200-43618200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr18:43614400-43617400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:43614400-43618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:43614400-43618600	Weak transcription	NHEK	skin
42	chr18:43614600-43620000	Weak transcription	NH-A	brain
43	chr18:43614800-43617400	Weak transcription	HMEC	breast
44	chr18:43614800-43621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:43615000-43619000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:43615400-43617400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:43615400-43620000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr18:43615800-43619400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:43615800-43622200	Weak transcription	Osteobl	bone
50	chr18:43616000-43619200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links