Variant report

Variant	rs1718969
Chromosome Location	chr7:112397322-112397323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112389653..112391501-chr7:112395467..112398561,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10216223	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10238492	0.82[CHB][hapmap]
rs10247759	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10249701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10269793	0.95[ASN][1000 genomes]
rs10271752	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273589	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs10275208	0.82[CHB][hapmap]
rs10280638	0.85[EUR][1000 genomes]
rs1227155	0.95[ASN][1000 genomes]
rs1227158	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227159	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1227168	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227171	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1227172	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227174	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227176	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227177	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1227183	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227190	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1238698	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535487	1.00[JPT][hapmap];0.84[TSI][hapmap]
rs12539085	0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]
rs1530756	0.82[CHB][hapmap]
rs1547554	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1615468	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17160078	0.82[CHB][hapmap]
rs1718944	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1718955	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1718957	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1718967	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1796491	0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796492	0.86[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796493	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796516	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1922907	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1996843	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2396570	0.82[CHB][hapmap]
rs2396574	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs2457	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687267	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2708296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs3957315	0.82[CHB][hapmap]
rs3997335	1.00[JPT][hapmap]
rs494324	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs549688	0.84[ASW][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap]
rs552304	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap]
rs564494	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6466421	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs660743	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs672911	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs685259	0.84[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap]
rs6944843	0.82[CHB][hapmap]
rs6945635	0.84[EUR][1000 genomes]
rs6946335	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6948575	0.95[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap]
rs6948876	0.95[ASN][1000 genomes]
rs6953522	0.85[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]
rs6955834	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970266	0.84[EUR][1000 genomes]
rs726593	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7777973	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781871	0.82[CHB][hapmap]
rs7789772	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7806781	1.00[CHB][hapmap]
rs7808616	0.82[CHB][hapmap]
rs821783	0.84[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap]
rs821785	0.84[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap]
rs821787	0.84[ASW][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap]
rs9649356	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655816	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9969347	0.82[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1718969	CAV2	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112399200	Weak transcription	Left Ventricle	heart
2	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:112389000-112405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:112389200-112412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
7	chr7:112391600-112418200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:112394600-112406800	Weak transcription	Fetal Lung	lung
10	chr7:112394600-112407200	Weak transcription	Ovary	ovary
11	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
12	chr7:112395400-112397400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
14	chr7:112396000-112407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:112396000-112407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:112396200-112409000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:112396400-112403400	Weak transcription	Fetal Heart	heart
19	chr7:112397000-112418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links