Variant report

Variant	rs7780991
Chromosome Location	chr7:12217878-12217879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1020007	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235641	0.98[EUR][1000 genomes]
rs10250890	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10260421	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281777	0.90[EUR][1000 genomes]
rs1042946	1.00[MEX][hapmap]
rs10950387	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950388	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977383	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977384	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979353	0.86[EUR][1000 genomes]
rs11979354	0.87[EUR][1000 genomes]
rs11980922	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531583	1.00[ASN][1000 genomes]
rs12531743	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536685	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536705	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537306	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537337	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539665	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699312	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699313	0.98[EUR][1000 genomes]
rs12699314	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699316	0.86[EUR][1000 genomes]
rs12699317	0.94[EUR][1000 genomes]
rs12699318	0.94[EUR][1000 genomes]
rs12699319	0.90[EUR][1000 genomes]
rs13221483	0.94[EUR][1000 genomes]
rs13221595	0.94[EUR][1000 genomes]
rs13223381	0.86[EUR][1000 genomes]
rs13226228	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226408	1.00[ASN][1000 genomes]
rs13226876	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227133	0.83[EUR][1000 genomes]
rs13228832	0.89[EUR][1000 genomes]
rs13229277	0.81[EUR][1000 genomes]
rs13230297	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232977	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232992	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233005	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233228	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233611	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236057	0.86[EUR][1000 genomes]
rs13237543	0.87[EUR][1000 genomes]
rs13241051	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241891	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241969	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243169	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244303	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245483	0.81[EUR][1000 genomes]
rs13245840	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245891	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246024	0.94[EUR][1000 genomes]
rs13306984	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13307377	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13309255	1.00[MEX][hapmap]
rs1347436	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28852213	1.00[ASN][1000 genomes]
rs34201361	0.92[EUR][1000 genomes]
rs36104470	0.89[EUR][1000 genomes]
rs59509870	0.89[ASN][1000 genomes]
rs6947317	0.89[ASN][1000 genomes]
rs6948974	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952453	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967233	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978380	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978570	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978632	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6978650	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71533421	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71533422	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779351	1.00[ASN][1000 genomes]
rs7783565	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783576	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783947	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784236	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788029	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788225	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788563	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788670	0.89[EUR][1000 genomes]
rs7795567	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799766	0.94[EUR][1000 genomes]
rs7800077	1.00[ASN][1000 genomes]
rs7802974	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804819	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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
4	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv887627	chr7:12178793-12227892	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv887628	chr7:12186502-12227892	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7780991	ARL4A	cis	parietal	SCAN
rs7780991	VWDE	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12217600-12218200	Enhancers	A549	lung
2	chr7:12217600-12218600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:12217800-12218000	Enhancers	Aorta	Aorta
4	chr7:12217800-12218200	Enhancers	Brain Germinal Matrix	brain
5	chr7:12217800-12218400	Enhancers	HepG2	liver

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