Variant report

Variant	rs12699317
Chromosome Location	chr7:12218132-12218133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1020007	0.90[EUR][1000 genomes]
rs10235641	0.92[EUR][1000 genomes]
rs10250890	0.92[EUR][1000 genomes]
rs10260421	0.87[EUR][1000 genomes]
rs10281777	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1042946	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10950387	0.92[EUR][1000 genomes]
rs10950388	0.92[EUR][1000 genomes]
rs11977383	0.92[EUR][1000 genomes]
rs11977384	0.92[EUR][1000 genomes]
rs11979354	0.81[EUR][1000 genomes]
rs11980922	0.92[EUR][1000 genomes]
rs12531743	0.87[EUR][1000 genomes]
rs12534492	0.92[EUR][1000 genomes]
rs12536685	0.92[EUR][1000 genomes]
rs12536705	0.92[EUR][1000 genomes]
rs12537306	0.92[EUR][1000 genomes]
rs12537337	0.91[EUR][1000 genomes]
rs12539665	0.92[EUR][1000 genomes]
rs12699312	0.92[EUR][1000 genomes]
rs12699313	0.92[EUR][1000 genomes]
rs12699314	0.92[EUR][1000 genomes]
rs12699316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699318	1.00[EUR][1000 genomes]
rs12699319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699322	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699325	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699326	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699334	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12699337	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12699339	0.82[EUR][1000 genomes]
rs12699340	0.82[AMR][1000 genomes]
rs12699341	0.82[AMR][1000 genomes]
rs13221483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13221595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13222858	0.82[AMR][1000 genomes]
rs13223216	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13223296	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13223381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13226228	0.84[EUR][1000 genomes]
rs13226876	0.89[EUR][1000 genomes]
rs13227133	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13228832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13229277	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13230297	0.92[EUR][1000 genomes]
rs13232977	0.92[EUR][1000 genomes]
rs13232992	0.92[EUR][1000 genomes]
rs13233005	0.92[EUR][1000 genomes]
rs13233228	0.92[EUR][1000 genomes]
rs13233611	0.92[EUR][1000 genomes]
rs13233991	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13234238	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13236057	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13237543	0.93[EUR][1000 genomes]
rs13241051	0.92[EUR][1000 genomes]
rs13241891	0.92[EUR][1000 genomes]
rs13241969	0.92[EUR][1000 genomes]
rs13243169	0.92[EUR][1000 genomes]
rs13244303	0.94[EUR][1000 genomes]
rs13245483	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245840	0.92[EUR][1000 genomes]
rs13245891	0.92[EUR][1000 genomes]
rs13246024	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13246340	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13306984	0.91[EUR][1000 genomes]
rs13307377	0.92[EUR][1000 genomes]
rs13309255	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13311466	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1347436	0.92[EUR][1000 genomes]
rs34167422	0.82[AMR][1000 genomes]
rs34201361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35390376	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35560707	0.82[AMR][1000 genomes]
rs36104470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6948974	0.92[EUR][1000 genomes]
rs6952453	0.92[EUR][1000 genomes]
rs6967233	0.92[EUR][1000 genomes]
rs6978380	0.92[EUR][1000 genomes]
rs6978570	0.92[EUR][1000 genomes]
rs6978632	0.89[EUR][1000 genomes]
rs6978650	0.92[EUR][1000 genomes]
rs71529336	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71533421	0.92[EUR][1000 genomes]
rs71533422	0.92[EUR][1000 genomes]
rs71536872	0.81[AMR][1000 genomes]
rs7780991	0.94[EUR][1000 genomes]
rs7783565	0.92[EUR][1000 genomes]
rs7783576	0.92[EUR][1000 genomes]
rs7783947	0.92[EUR][1000 genomes]
rs7784236	0.90[EUR][1000 genomes]
rs7788029	0.92[EUR][1000 genomes]
rs7788225	0.92[EUR][1000 genomes]
rs7788563	0.90[EUR][1000 genomes]
rs7788670	0.84[EUR][1000 genomes]
rs7795567	0.85[EUR][1000 genomes]
rs7799766	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7802974	0.90[EUR][1000 genomes]
rs7804819	0.92[EUR][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

No data

Chromatin state (count:4 , 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	chr7:12217800-12218200	Enhancers	Brain Germinal Matrix	brain
4	chr7:12217800-12218400	Enhancers	HepG2	liver

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