Variant report

Variant	rs145527
Chromosome Location	chr7:103280896-103280897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1006817	1.00[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10238708	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10264864	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs10280665	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs10280766	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs10281266	0.95[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs10435337	0.95[CEU][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap]
rs10487162	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074301	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1074302	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535373	0.91[CEU][hapmap];0.80[JPT][hapmap]
rs12539504	0.82[JPT][hapmap]
rs12540537	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs1355354	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs17153808	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1912552	0.90[CEU][hapmap]
rs2073555	0.97[ASN][1000 genomes]
rs2073558	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2106174	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2188181	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2191704	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283024	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs2283027	0.85[CEU][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap]
rs2283028	0.81[CEU][hapmap];0.81[MEX][hapmap]
rs2299340	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299359	0.81[AMR][1000 genomes]
rs2299360	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2299372	0.91[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs2299374	0.91[CEU][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap]
rs2299375	0.91[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs35323065	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362629	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs362632	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs362637	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs362639	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs362664	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs362705	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808020	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819456	0.95[CEU][hapmap];0.81[JPT][hapmap]
rs6950480	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6954563	0.89[CEU][hapmap]
rs6958081	0.80[GIH][hapmap];0.82[JPT][hapmap]
rs6966096	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6966411	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6969389	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6977616	0.86[JPT][hapmap]
rs727531	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786713	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7787983	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798414	0.91[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs7800136	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690586	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975743	0.91[CEU][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]

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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv516122	chr7:103274567-103291825	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs145527	UFSP1	cis	parietal	SCAN
rs145527	AZGP1	cis	cerebellum	SCAN
rs145527	GNB2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103273000-103283600	Weak transcription	K562	blood
2	chr7:103277000-103281200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:103277000-103281200	Enhancers	NHDF-Ad	bronchial
4	chr7:103277000-103289200	Weak transcription	HepG2	liver
5	chr7:103277600-103281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:103278800-103281400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:103278800-103300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:103279000-103281800	Weak transcription	HUVEC	blood vessel
9	chr7:103280000-103281400	Enhancers	NHLF	lung
10	chr7:103280600-103281200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:103280600-103281200	Enhancers	HMEC	breast
12	chr7:103280600-103281200	Enhancers	NH-A	brain
13	chr7:103280600-103281200	Enhancers	NHEK	skin
14	chr7:103280600-103281200	Enhancers	Osteobl	bone
15	chr7:103280800-103281200	Enhancers	HSMM	muscle
16	chr7:103280800-103282000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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