Variant report

Variant	rs12062861
Chromosome Location	chr1:150017281-150017282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150015530..150017614-chr1:150019646..150022042,2	MCF-7	breast:
2	chr1:149856755..149861735-chr1:150014773..150024288,21	MCF-7	breast:
3	chr1:149943671..149946306-chr1:150017241..150019364,2	MCF-7	breast:
4	chr1:150011021..150013684-chr1:150016711..150019672,2	MCF-7	breast:
5	chr1:149855348..149862315-chr1:150015478..150024375,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 228 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:225)

rs_ID	r²[population]
rs10494261	1.00[ASN][1000 genomes]
rs10494264	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494363	1.00[ASN][1000 genomes]
rs10749674	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888568	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888569	0.95[EUR][1000 genomes]
rs10888572	0.80[EUR][1000 genomes]
rs1105209	1.00[ASN][1000 genomes]
rs11205307	1.00[ASN][1000 genomes]
rs11205308	1.00[ASN][1000 genomes]
rs11205316	0.88[EUR][1000 genomes]
rs11205317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205329	0.82[EUR][1000 genomes]
rs11205331	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205333	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11548267	1.00[ASN][1000 genomes]
rs11576997	1.00[ASN][1000 genomes]
rs11577346	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580307	1.00[ASN][1000 genomes]
rs11583720	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584091	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584354	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584606	1.00[ASN][1000 genomes]
rs11585955	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587963	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588837	1.00[ASN][1000 genomes]
rs11589585	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589801	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589922	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591200	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058090	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058502	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060027	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060830	1.00[ASN][1000 genomes]
rs12061167	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12061196	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061565	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061856	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063281	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063329	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064532	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12065681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066132	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073359	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074281	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077623	1.00[ASN][1000 genomes]
rs12078573	1.00[ASN][1000 genomes]
rs12081082	1.00[ASN][1000 genomes]
rs12086155	1.00[ASN][1000 genomes]
rs12087578	1.00[ASN][1000 genomes]
rs12093499	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098106	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124898	1.00[ASN][1000 genomes]
rs12138231	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138787	1.00[ASN][1000 genomes]
rs1339494	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339495	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382573	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545762	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833149	1.00[ASN][1000 genomes]
rs16835254	1.00[ASN][1000 genomes]
rs16836630	1.00[ASN][1000 genomes]
rs17643644	1.00[ASN][1000 genomes]
rs1804775	1.00[ASN][1000 genomes]
rs1824848	0.81[EUR][1000 genomes]
rs1824849	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824850	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964542	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975957	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027349	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039800	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044891	1.00[ASN][1000 genomes]
rs2169895	0.91[EUR][1000 genomes]
rs2198194	1.00[ASN][1000 genomes]
rs2318763	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319280	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28366567	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28443768	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28560140	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660389	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118119	1.00[ASN][1000 genomes]
rs3208509	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755378	1.00[ASN][1000 genomes]
rs35230744	1.00[ASN][1000 genomes]
rs3850838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925724	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4058847	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264630	1.00[ASN][1000 genomes]
rs41265185	1.00[ASN][1000 genomes]
rs41302101	1.00[ASN][1000 genomes]
rs45548131	1.00[ASN][1000 genomes]
rs4926388	0.83[EUR][1000 genomes]
rs4926391	0.81[EUR][1000 genomes]
rs4926406	0.81[EUR][1000 genomes]
rs4926407	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926408	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926409	0.82[EUR][1000 genomes]
rs4926411	1.00[ASN][1000 genomes]
rs4926412	1.00[ASN][1000 genomes]
rs55633125	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647342	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55705001	1.00[ASN][1000 genomes]
rs55802315	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840680	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840906	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55909733	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918911	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963510	1.00[ASN][1000 genomes]
rs56125600	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188926	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212907	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56265028	1.00[ASN][1000 genomes]
rs56305459	1.00[ASN][1000 genomes]
rs56349882	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369603	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892994	1.00[ASN][1000 genomes]
rs57926929	0.89[EUR][1000 genomes]
rs58395667	1.00[ASN][1000 genomes]
rs58426216	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59054339	1.00[ASN][1000 genomes]
rs59607464	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657062	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66649150	1.00[ASN][1000 genomes]
rs6666959	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687454	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694729	0.87[EUR][1000 genomes]
rs67450539	1.00[ASN][1000 genomes]
rs67880399	1.00[ASN][1000 genomes]
rs68144650	1.00[ASN][1000 genomes]
rs72692803	1.00[ASN][1000 genomes]
rs72692804	1.00[ASN][1000 genomes]
rs72692805	1.00[ASN][1000 genomes]
rs72692807	1.00[ASN][1000 genomes]
rs72692808	1.00[ASN][1000 genomes]
rs72692810	1.00[ASN][1000 genomes]
rs72692811	1.00[ASN][1000 genomes]
rs72692812	1.00[ASN][1000 genomes]
rs72692813	1.00[ASN][1000 genomes]
rs72692814	1.00[ASN][1000 genomes]
rs72692816	1.00[ASN][1000 genomes]
rs72692818	1.00[ASN][1000 genomes]
rs72692819	1.00[ASN][1000 genomes]
rs72692834	1.00[ASN][1000 genomes]
rs72692835	1.00[ASN][1000 genomes]
rs72692837	1.00[ASN][1000 genomes]
rs72692840	1.00[ASN][1000 genomes]
rs72692842	1.00[ASN][1000 genomes]
rs72692843	1.00[ASN][1000 genomes]
rs72692849	1.00[ASN][1000 genomes]
rs72692851	1.00[ASN][1000 genomes]
rs72692854	1.00[ASN][1000 genomes]
rs72692857	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692861	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692862	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692866	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692869	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692886	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692893	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692896	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692897	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692898	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692899	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692900	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692901	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694905	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694906	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694908	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694914	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694915	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694917	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694918	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694919	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694923	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694926	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694927	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694928	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694933	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694936	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694942	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694943	0.88[EUR][1000 genomes]
rs72694944	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694945	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694946	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694950	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694951	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694953	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694954	0.87[EUR][1000 genomes]
rs72694956	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694957	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694959	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694960	1.00[ASN][1000 genomes]
rs72694961	1.00[ASN][1000 genomes]
rs72694962	1.00[ASN][1000 genomes]
rs72694964	1.00[ASN][1000 genomes]
rs72694965	1.00[ASN][1000 genomes]
rs72694969	1.00[ASN][1000 genomes]
rs72694974	1.00[ASN][1000 genomes]
rs72694990	1.00[ASN][1000 genomes]
rs72694993	1.00[ASN][1000 genomes]
rs72708162	1.00[ASN][1000 genomes]
rs73008195	1.00[ASN][1000 genomes]
rs7519918	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520930	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521768	1.00[ASN][1000 genomes]
rs7521783	1.00[ASN][1000 genomes]
rs7530922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532876	1.00[ASN][1000 genomes]
rs7540847	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544531	1.00[ASN][1000 genomes]
rs7550323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550350	0.95[EUR][1000 genomes]
rs7553622	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554367	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555080	0.89[EUR][1000 genomes]
rs9662055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv947321	chr1:150007387-150030042	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149985600-150022000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
3	chr1:150003800-150022400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:150006600-150022400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:150016800-150024000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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