Variant report

Variant	rs7000750
Chromosome Location	chr8:105130066-105130067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10089935	0.81[EUR][1000 genomes]
rs10092540	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10095111	0.81[EUR][1000 genomes]
rs10099604	0.81[EUR][1000 genomes]
rs10102864	0.81[EUR][1000 genomes]
rs10104024	0.81[EUR][1000 genomes]
rs10104609	0.81[EUR][1000 genomes]
rs10104834	0.81[EUR][1000 genomes]
rs10105325	0.81[EUR][1000 genomes]
rs10105457	0.81[EUR][1000 genomes]
rs10106473	0.80[EUR][1000 genomes]
rs10107363	0.81[EUR][1000 genomes]
rs10108518	0.80[EUR][1000 genomes]
rs10113583	0.80[EUR][1000 genomes]
rs10505054	0.81[EUR][1000 genomes]
rs11986611	0.81[EUR][1000 genomes]
rs11991635	0.80[EUR][1000 genomes]
rs11991639	0.80[EUR][1000 genomes]
rs11995455	0.80[EUR][1000 genomes]
rs12155654	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155943	0.81[EUR][1000 genomes]
rs12156287	0.81[EUR][1000 genomes]
rs12335031	0.80[EUR][1000 genomes]
rs12335061	0.80[EUR][1000 genomes]
rs13252467	0.80[EUR][1000 genomes]
rs13261102	0.81[EUR][1000 genomes]
rs13267260	0.81[EUR][1000 genomes]
rs13268255	0.80[EUR][1000 genomes]
rs13272829	0.81[EUR][1000 genomes]
rs13273680	0.81[EUR][1000 genomes]
rs13276571	0.81[EUR][1000 genomes]
rs13277316	0.81[EUR][1000 genomes]
rs13278933	0.81[EUR][1000 genomes]
rs13279319	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279907	0.81[EUR][1000 genomes]
rs13438964	0.81[EUR][1000 genomes]
rs13438970	0.81[EUR][1000 genomes]
rs13439722	0.81[EUR][1000 genomes]
rs16870937	0.81[EUR][1000 genomes]
rs16892387	0.81[EUR][1000 genomes]
rs16892389	0.81[EUR][1000 genomes]
rs16892392	0.81[EUR][1000 genomes]
rs28565445	0.81[EUR][1000 genomes]
rs28637802	0.81[EUR][1000 genomes]
rs28715567	0.80[EUR][1000 genomes]
rs34057449	0.80[EUR][1000 genomes]
rs34057677	0.81[EUR][1000 genomes]
rs34387863	0.80[EUR][1000 genomes]
rs34893520	0.80[EUR][1000 genomes]
rs34975613	0.97[ASN][1000 genomes]
rs35426233	0.81[EUR][1000 genomes]
rs35784870	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4305866	0.81[EUR][1000 genomes]
rs4486167	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4512346	0.81[EUR][1000 genomes]
rs4581014	0.81[EUR][1000 genomes]
rs55788818	0.81[EUR][1000 genomes]
rs57309489	0.81[EUR][1000 genomes]
rs60380097	0.81[EUR][1000 genomes]
rs62508071	0.81[EUR][1000 genomes]
rs62508073	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510988	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62510989	0.80[EUR][1000 genomes]
rs9297344	0.81[EUR][1000 genomes]
rs9650012	0.81[EUR][1000 genomes]
rs9656861	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942756	0.81[EUR][1000 genomes]
rs9969594	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv465753	chr8:104956705-105136549	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv611833	chr8:104956705-105136549	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv611834	chr8:105016866-105140610	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv611835	chr8:105090980-105153786	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1818798	chr8:105125672-105155544	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7000750	NACAP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105115400-105150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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