Variant report

Variant	rs72694990
Chromosome Location	chr1:150223780-150223781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150222634..150224388-chr1:150224660..150227357,2	K562	blood:
2	chr1:150222097..150224509-chr1:150232881..150235571,2	MCF-7	breast:
3	chr1:150208523..150211890-chr1:150220094..150224836,4	MCF-7	breast:
4	chr1:150221374..150224250-chr1:150227593..150230126,3	MCF-7	breast:
5	chr1:150222083..150223904-chr1:150235956..150238749,2	MCF-7	breast:
6	chr1:150211638..150214973-chr1:150221344..150224358,4	MCF-7	breast:
7	chr1:150208680..150211856-chr1:150219396..150224319,4	K562	blood:

Variant related genes	Relation type
ENSG00000222222	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000271845	Chromatin interaction

Extended variants
information (count: 220 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:215)

rs_ID	r²[population]
rs10494264	1.00[ASN][1000 genomes]
rs10749674	1.00[ASN][1000 genomes]
rs10888568	1.00[ASN][1000 genomes]
rs1105209	1.00[ASN][1000 genomes]
rs11205317	1.00[ASN][1000 genomes]
rs11205319	1.00[ASN][1000 genomes]
rs11205321	1.00[ASN][1000 genomes]
rs11205326	1.00[ASN][1000 genomes]
rs11205331	1.00[ASN][1000 genomes]
rs11205333	1.00[ASN][1000 genomes]
rs11205360	0.85[EUR][1000 genomes]
rs11205361	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205362	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205374	1.00[ASN][1000 genomes]
rs11205377	1.00[ASN][1000 genomes]
rs11548267	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576289	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576293	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576997	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577346	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11577751	1.00[ASN][1000 genomes]
rs11578585	1.00[ASN][1000 genomes]
rs11579087	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11579341	1.00[ASN][1000 genomes]
rs11580234	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580307	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580764	1.00[ASN][1000 genomes]
rs11582835	1.00[ASN][1000 genomes]
rs11583720	1.00[ASN][1000 genomes]
rs11584070	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584091	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11584354	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11584606	1.00[ASN][1000 genomes]
rs11584761	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585955	1.00[ASN][1000 genomes]
rs11586880	1.00[ASN][1000 genomes]
rs11587606	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587682	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587837	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587963	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11588221	1.00[ASN][1000 genomes]
rs11588837	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589585	1.00[ASN][1000 genomes]
rs11589801	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11589922	1.00[ASN][1000 genomes]
rs11591200	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12058090	1.00[ASN][1000 genomes]
rs12058502	1.00[ASN][1000 genomes]
rs12060027	1.00[ASN][1000 genomes]
rs12060211	1.00[ASN][1000 genomes]
rs12061196	1.00[ASN][1000 genomes]
rs12061565	1.00[ASN][1000 genomes]
rs12061856	1.00[ASN][1000 genomes]
rs12062861	1.00[ASN][1000 genomes]
rs12063059	1.00[ASN][1000 genomes]
rs12063281	1.00[ASN][1000 genomes]
rs12063329	1.00[ASN][1000 genomes]
rs12065681	1.00[ASN][1000 genomes]
rs12066132	1.00[ASN][1000 genomes]
rs12066293	1.00[ASN][1000 genomes]
rs12067422	1.00[ASN][1000 genomes]
rs12073359	1.00[ASN][1000 genomes]
rs12074281	1.00[ASN][1000 genomes]
rs12086155	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093499	1.00[ASN][1000 genomes]
rs12098106	1.00[ASN][1000 genomes]
rs12119320	1.00[ASN][1000 genomes]
rs12120683	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120867	1.00[ASN][1000 genomes]
rs12123044	1.00[ASN][1000 genomes]
rs12124898	1.00[ASN][1000 genomes]
rs12126312	1.00[ASN][1000 genomes]
rs12128385	1.00[ASN][1000 genomes]
rs12134682	1.00[ASN][1000 genomes]
rs12138231	1.00[ASN][1000 genomes]
rs12138787	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139286	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142178	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142331	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144315	0.87[EUR][1000 genomes]
rs12144958	1.00[ASN][1000 genomes]
rs12145630	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339494	1.00[ASN][1000 genomes]
rs1339495	1.00[ASN][1000 genomes]
rs1382573	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1545762	1.00[ASN][1000 genomes]
rs16835254	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835780	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824849	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1824850	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1964542	1.00[ASN][1000 genomes]
rs1975957	1.00[ASN][1000 genomes]
rs2027349	1.00[ASN][1000 genomes]
rs2039800	1.00[ASN][1000 genomes]
rs2133128	1.00[ASN][1000 genomes]
rs2318763	1.00[ASN][1000 genomes]
rs2319280	1.00[ASN][1000 genomes]
rs28366567	1.00[ASN][1000 genomes]
rs28443768	1.00[ASN][1000 genomes]
rs28560019	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28560140	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28660389	1.00[ASN][1000 genomes]
rs28753817	1.00[ASN][1000 genomes]
rs3118119	1.00[ASN][1000 genomes]
rs3208509	1.00[ASN][1000 genomes]
rs34755378	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850838	1.00[ASN][1000 genomes]
rs3925724	1.00[ASN][1000 genomes]
rs4058847	1.00[ASN][1000 genomes]
rs41300865	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265470	1.00[ASN][1000 genomes]
rs4926407	1.00[ASN][1000 genomes]
rs4926408	1.00[ASN][1000 genomes]
rs4926411	1.00[ASN][1000 genomes]
rs4926412	1.00[ASN][1000 genomes]
rs55633125	1.00[ASN][1000 genomes]
rs55647342	1.00[ASN][1000 genomes]
rs55802315	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55840680	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55840906	1.00[ASN][1000 genomes]
rs55909733	1.00[ASN][1000 genomes]
rs55918911	1.00[ASN][1000 genomes]
rs55963510	1.00[ASN][1000 genomes]
rs55973252	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125600	1.00[ASN][1000 genomes]
rs56133109	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188926	1.00[ASN][1000 genomes]
rs56212907	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56305459	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349882	1.00[ASN][1000 genomes]
rs56369603	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56397877	1.00[AFR][1000 genomes]
rs56892994	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395667	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58426216	1.00[ASN][1000 genomes]
rs59607464	1.00[ASN][1000 genomes]
rs6657062	1.00[ASN][1000 genomes]
rs66649150	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666959	1.00[ASN][1000 genomes]
rs6687454	1.00[ASN][1000 genomes]
rs67880399	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692854	1.00[ASN][1000 genomes]
rs72692857	1.00[ASN][1000 genomes]
rs72692861	1.00[ASN][1000 genomes]
rs72692862	1.00[ASN][1000 genomes]
rs72692865	1.00[ASN][1000 genomes]
rs72692866	1.00[ASN][1000 genomes]
rs72692869	1.00[ASN][1000 genomes]
rs72692873	1.00[AFR][1000 genomes]
rs72692886	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72692893	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72692895	1.00[ASN][1000 genomes]
rs72692896	1.00[ASN][1000 genomes]
rs72692897	1.00[ASN][1000 genomes]
rs72692898	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72692899	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72692900	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72692901	1.00[ASN][1000 genomes]
rs72694905	1.00[ASN][1000 genomes]
rs72694906	1.00[ASN][1000 genomes]
rs72694908	1.00[ASN][1000 genomes]
rs72694914	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694915	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694917	1.00[ASN][1000 genomes]
rs72694918	1.00[ASN][1000 genomes]
rs72694919	1.00[ASN][1000 genomes]
rs72694923	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694926	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694927	1.00[ASN][1000 genomes]
rs72694928	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694933	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694936	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694942	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694944	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694945	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694946	1.00[ASN][1000 genomes]
rs72694950	1.00[ASN][1000 genomes]
rs72694951	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694953	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694956	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694957	1.00[ASN][1000 genomes]
rs72694959	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694960	1.00[ASN][1000 genomes]
rs72694961	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694962	1.00[ASN][1000 genomes]
rs72694964	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694965	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694969	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72694972	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72694974	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694993	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696807	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696808	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696824	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696828	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696841	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696848	1.00[ASN][1000 genomes]
rs72696852	1.00[ASN][1000 genomes]
rs72696859	1.00[ASN][1000 genomes]
rs72696873	1.00[ASN][1000 genomes]
rs72696901	1.00[ASN][1000 genomes]
rs72698822	1.00[ASN][1000 genomes]
rs72698842	1.00[ASN][1000 genomes]
rs7519918	1.00[ASN][1000 genomes]
rs7520930	1.00[ASN][1000 genomes]
rs7521768	1.00[ASN][1000 genomes]
rs7521783	1.00[ASN][1000 genomes]
rs7530922	1.00[ASN][1000 genomes]
rs7532876	1.00[ASN][1000 genomes]
rs7540847	1.00[ASN][1000 genomes]
rs7550323	1.00[ASN][1000 genomes]
rs7553622	1.00[ASN][1000 genomes]
rs7554367	1.00[ASN][1000 genomes]
rs942453	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662055	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:150222800-150228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:150223000-150227800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:150223000-150228000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:150223000-150228000	Weak transcription	HepG2	liver
5	chr1:150223200-150227800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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