Variant report

Variant	rs12530718
Chromosome Location	chr7:26931205-26931206
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10227231	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10227529	0.81[ASN][1000 genomes]
rs10227553	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227673	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10227898	0.88[CHB][hapmap]
rs10236221	0.81[ASN][1000 genomes]
rs10238645	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10239608	0.84[CEU][hapmap];0.88[CHB][hapmap]
rs10242572	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10242754	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10244751	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10248500	0.81[ASN][1000 genomes]
rs10248684	0.81[ASN][1000 genomes]
rs10251839	0.81[ASN][1000 genomes]
rs10256250	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10267950	0.89[JPT][hapmap]
rs10270187	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272190	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272457	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272603	0.81[ASN][1000 genomes]
rs10273468	0.87[CHB][hapmap]
rs10276471	0.89[JPT][hapmap]
rs10281261	0.89[JPT][hapmap]
rs10486478	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs10486483	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10486485	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1123158	0.88[CHB][hapmap]
rs11563327	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11770043	0.88[CHB][hapmap]
rs11772673	0.88[CHB][hapmap]
rs11773029	0.88[CHB][hapmap]
rs12532796	0.89[JPT][hapmap]
rs12533561	0.84[ASN][1000 genomes]
rs12534899	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12534901	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534912	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534921	0.81[ASN][1000 genomes]
rs12535784	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12536145	0.81[ASN][1000 genomes]
rs12536560	0.89[JPT][hapmap]
rs12537323	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12540045	0.81[ASN][1000 genomes]
rs12540388	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12540508	0.81[ASN][1000 genomes]
rs12700761	0.88[CHB][hapmap]
rs13229947	0.88[CHB][hapmap]
rs1327988	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs1327989	0.88[JPT][hapmap]
rs13438513	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs13438514	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17315775	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs17315929	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17323934	0.88[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs17372780	0.88[CHB][hapmap]
rs17375272	0.81[ASN][1000 genomes]
rs17376018	0.81[ASN][1000 genomes]
rs17377696	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17436410	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17437175	1.00[YRI][hapmap]
rs17471061	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17471088	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1967332	0.81[ASN][1000 genomes]
rs1982995	0.81[ASN][1000 genomes]
rs2030136	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2031811	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2082365	0.80[CEU][hapmap];0.88[CHB][hapmap]
rs2106905	0.89[JPT][hapmap]
rs2189016	0.88[JPT][hapmap]
rs2189017	0.89[JPT][hapmap]
rs2189019	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs2237328	0.89[CHB][hapmap]
rs2248744	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2253415	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2264802	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264803	0.90[ASN][1000 genomes]
rs2282906	0.88[CHB][hapmap]
rs2299102	0.88[CHB][hapmap]
rs2391360	0.88[CHB][hapmap]
rs2391362	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2428416	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2428417	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2428418	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2462900	0.88[ASN][1000 genomes]
rs2462902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2462904	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462910	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465264	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2465266	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2465270	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2465271	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2522824	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2648076	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693662	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693665	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693668	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712234	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2712238	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712242	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712244	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712245	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712246	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712250	1.00[AFR][1000 genomes]
rs28550029	0.81[ASN][1000 genomes]
rs28816386	0.81[ASN][1000 genomes]
rs28883078	0.81[ASN][1000 genomes]
rs3213853	0.81[ASN][1000 genomes]
rs3801803	0.88[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3801805	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801807	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801808	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801809	0.81[ASN][1000 genomes]
rs3801810	0.89[JPT][hapmap]
rs3801812	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801813	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801814	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801815	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801816	0.89[JPT][hapmap]
rs3801819	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801820	0.88[JPT][hapmap]
rs3801821	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801825	0.89[JPT][hapmap]
rs3801827	0.89[JPT][hapmap]
rs3801828	0.89[JPT][hapmap]
rs3801830	0.88[JPT][hapmap]
rs3801840	0.89[JPT][hapmap]
rs3801842	0.89[JPT][hapmap]
rs3801843	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs3801844	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs3801848	0.89[JPT][hapmap]
rs3801850	0.89[JPT][hapmap]
rs3801853	0.86[CHB][hapmap]
rs3823928	0.81[ASN][1000 genomes]
rs3823932	0.89[JPT][hapmap]
rs3823933	0.89[JPT][hapmap]
rs3823934	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs3823936	1.00[JPT][hapmap]
rs3934268	0.81[ASN][1000 genomes]
rs4719877	0.89[JPT][hapmap]
rs4719882	0.81[ASN][1000 genomes]
rs4722630	0.89[JPT][hapmap]
rs4722631	0.88[CHB][hapmap]
rs4722647	0.81[ASN][1000 genomes]
rs55889667	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56144845	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs56154570	0.81[ASN][1000 genomes]
rs57623217	0.81[ASN][1000 genomes]
rs59254259	0.81[ASN][1000 genomes]
rs61354389	0.81[ASN][1000 genomes]
rs62454249	0.91[ASN][1000 genomes]
rs6461962	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs6461963	0.89[JPT][hapmap]
rs6461979	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs6461980	0.81[ASN][1000 genomes]
rs6948657	0.89[JPT][hapmap]
rs6951065	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs6964817	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs6971397	0.88[JPT][hapmap]
rs6972378	0.89[JPT][hapmap]
rs727450	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs73069507	0.81[ASN][1000 genomes]
rs73069510	0.81[ASN][1000 genomes]
rs73069533	0.81[ASN][1000 genomes]
rs73069540	0.83[ASN][1000 genomes]
rs73069541	0.83[ASN][1000 genomes]
rs7457076	0.89[JPT][hapmap]
rs763616	0.86[CHB][hapmap]
rs7785832	0.89[JPT][hapmap]
rs7791513	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7804356	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7804620	0.81[ASN][1000 genomes]
rs7805766	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7807640	0.88[CHB][hapmap]
rs891876	0.88[CHB][hapmap]
rs9648020	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv981787	chr7:26916457-26935351	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12530718	HOXA2	cis	Whole Blood	GTEx
rs12530718	SKAP2	Cis_1M	lymphoblastoid	RTeQTL
rs12530718	HOTAIRM1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26930800-26931800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:26931200-26931800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:26931200-26931800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:26931200-26931800	Enhancers	GM12878-XiMat	blood
5	chr7:26931200-26931800	Enhancers	NHEK	skin

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