Variant report

Variant	rs359703
Chromosome Location	chr2:127132292-127132293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11674115	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11674405	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11675808	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11682924	0.87[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11684235	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11687739	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688466	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11688974	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11690602	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11691311	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691316	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11693558	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11694971	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11695746	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12990559	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12999041	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12999792	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13001087	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13001283	0.83[EUR][1000 genomes]
rs13001322	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13008414	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13010045	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13020607	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13020846	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13027486	0.87[CEU][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13034164	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13034200	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13034238	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17281203	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs243417	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34062495	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34087027	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34228135	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34731630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34737330	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34875932	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34939949	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34961369	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34971908	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34981967	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35432246	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35486466	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35506144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35876832	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs359688	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs359704	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs359708	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs360292	1.00[MEX][hapmap];0.96[TSI][hapmap]
rs360293	0.80[CEU][hapmap]
rs360296	0.80[CEU][hapmap]
rs360299	0.80[CEU][hapmap]
rs360302	0.80[CEU][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs360303	0.80[CEU][hapmap]
rs360307	0.80[CEU][hapmap]
rs360308	0.80[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs36061035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66530889	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66701958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66815786	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67155347	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71413444	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72841597	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874998	chr2:126917647-127175585	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv2757831	chr2:127033017-127161094	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759089	chr2:127033017-127161094	Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874999	chr2:127068140-127218915	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv834364	chr2:127100752-127267070	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs359703	SAP130	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127129200-127137000	Weak transcription	Pancreas	Pancrea

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