Variant report

Variant	rs1811453
Chromosome Location	chr17:20232193-20232194
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11654025	0.85[EUR][1000 genomes]
rs11870147	0.86[EUR][1000 genomes]
rs11871827	0.86[EUR][1000 genomes]
rs11871945	0.86[EUR][1000 genomes]
rs1373147	0.86[EUR][1000 genomes]
rs1561974	0.85[EUR][1000 genomes]
rs1992562	0.86[EUR][1000 genomes]
rs2005722	0.82[EUR][1000 genomes]
rs2013576	0.82[EUR][1000 genomes]
rs2034109	0.85[EUR][1000 genomes]
rs2058971	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2120282	0.86[EUR][1000 genomes]
rs2158473	0.80[EUR][1000 genomes]
rs2165897	0.86[EUR][1000 genomes]
rs2386429	0.86[EUR][1000 genomes]
rs2526467	0.82[EUR][1000 genomes]
rs2526472	0.80[EUR][1000 genomes]
rs2526474	0.80[EUR][1000 genomes]
rs2526475	0.80[EUR][1000 genomes]
rs2543917	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2703774	0.80[EUR][1000 genomes]
rs2703778	0.80[EUR][1000 genomes]
rs2703780	0.80[EUR][1000 genomes]
rs2703785	0.80[EUR][1000 genomes]
rs2703787	0.81[EUR][1000 genomes]
rs2703789	0.81[EUR][1000 genomes]
rs2703790	0.81[EUR][1000 genomes]
rs2703791	0.82[EUR][1000 genomes]
rs2703792	0.82[EUR][1000 genomes]
rs2703815	0.80[EUR][1000 genomes]
rs2703816	0.80[EUR][1000 genomes]
rs2703817	0.80[EUR][1000 genomes]
rs2703818	0.80[EUR][1000 genomes]
rs2703820	0.80[EUR][1000 genomes]
rs2703821	0.80[EUR][1000 genomes]
rs35429894	0.81[EUR][1000 genomes]
rs3850782	0.81[EUR][1000 genomes]
rs3850783	0.83[EUR][1000 genomes]
rs3850784	0.83[EUR][1000 genomes]
rs3850785	0.83[EUR][1000 genomes]
rs6587063	0.85[EUR][1000 genomes]
rs7207611	0.86[EUR][1000 genomes]
rs8071665	0.86[EUR][1000 genomes]
rs8074047	0.83[EUR][1000 genomes]
rs8079701	0.86[EUR][1000 genomes]
rs9325894	0.85[EUR][1000 genomes]
rs9892630	0.83[EUR][1000 genomes]
rs9896221	0.83[EUR][1000 genomes]
rs9896709	0.83[EUR][1000 genomes]
rs9897328	0.83[EUR][1000 genomes]
rs9900166	0.85[EUR][1000 genomes]
rs9904928	0.83[EUR][1000 genomes]
rs9905493	0.84[EUR][1000 genomes]
rs9913818	0.86[EUR][1000 genomes]
rs9915059	0.83[EUR][1000 genomes]
rs9915628	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	esv32786	chr17:20219434-20294008	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv471495	chr17:20221409-20464225	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1059504	chr17:20222112-20581021	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	nsv1066679	chr17:20225751-20433857	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv978388	chr17:20225783-20279044	Weak transcription Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1811453	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20224600-20241200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links