Variant report

Variant	rs507224
Chromosome Location	chr11:58499979-58499980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1014068	0.88[AMR][1000 genomes]
rs10792181	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10792183	0.88[AMR][1000 genomes]
rs10792184	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs10792185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs10896825	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896828	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896830	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896832	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10896845	0.88[AMR][1000 genomes]
rs10896847	0.88[AMR][1000 genomes]
rs10896848	0.88[AMR][1000 genomes]
rs10896849	0.88[AMR][1000 genomes]
rs10896851	0.88[AMR][1000 genomes]
rs10896852	0.88[AMR][1000 genomes]
rs10896853	0.88[AMR][1000 genomes]
rs10896854	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs10896856	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs10896857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs10896858	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs10896859	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes]
rs11229625	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229626	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229629	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229649	0.88[AMR][1000 genomes]
rs11229650	0.88[AMR][1000 genomes]
rs11229651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes]
rs11229653	0.88[AMR][1000 genomes]
rs11229655	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes]
rs11229656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs11229657	0.86[AMR][1000 genomes]
rs11229658	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs11535770	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12146504	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12146511	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12224097	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12224475	0.88[AMR][1000 genomes]
rs12225778	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs12419236	0.88[AMR][1000 genomes]
rs17153009	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs1893631	0.88[AMR][1000 genomes]
rs1893632	0.85[AMR][1000 genomes]
rs1938698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938708	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938709	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938711	0.86[ASN][1000 genomes]
rs1938714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938715	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938716	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938728	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1943254	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943258	0.84[ASN][1000 genomes]
rs1943262	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943263	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943267	0.81[AMR][1000 genomes]
rs1943268	0.81[AMR][1000 genomes]
rs1943271	0.84[AMR][1000 genomes]
rs1943272	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1943276	0.88[AMR][1000 genomes]
rs1943280	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes]
rs1943281	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs1943282	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs1943303	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943307	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1943308	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1962553	0.85[AMR][1000 genomes]
rs2097018	0.88[AMR][1000 genomes]
rs2097019	0.88[AMR][1000 genomes]
rs2156346	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs2186414	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs2187264	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2212845	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2497368	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497377	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497379	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472569	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479854	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs483101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487054	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs491849	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492795	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4939220	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4939222	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4939226	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs4939227	0.88[AMR][1000 genomes]
rs4939228	0.88[AMR][1000 genomes]
rs4939229	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes]
rs4939230	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes]
rs4939231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes]
rs511772	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs521200	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522568	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524234	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524516	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528136	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs539567	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs542537	0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs543032	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547178	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547654	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs547895	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550362	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558274	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56383501	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56407726	0.85[AMR][1000 genomes]
rs566084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570244	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572856	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58504618	0.88[AMR][1000 genomes]
rs590157	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591121	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591628	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614561	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs616779	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621137	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621780	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628124	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631103	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs667445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675423	0.88[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs675757	0.88[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs677988	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679625	0.84[CEU][hapmap]
rs7119206	0.84[ASN][1000 genomes]
rs72929706	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72929752	0.88[AMR][1000 genomes]
rs9888240	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9943656	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs507224	TMX2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58499400-58500000	Enhancers	HepG2	liver
2	chr11:58499400-58500400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:58499400-58501000	Enhancers	Fetal Intestine Large	intestine
4	chr11:58499600-58500000	Flanking Active TSS	Liver	Liver
5	chr11:58499800-58500400	Enhancers	Adipose Nuclei	Adipose

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