Variant report

Variant	rs4964410
Chromosome Location	chr12:106167627-106167628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106167188..106170393-chr12:106530093..106534046,5	MCF-7	breast:
2	chr12:106160229..106162782-chr12:106166515..106168634,2	K562	blood:
3	chr12:106166809..106169748-chr12:106534661..106536595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507199	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10732669	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735409	0.88[ASN][1000 genomes]
rs10735410	0.92[ASN][1000 genomes]
rs10735411	0.87[ASN][1000 genomes]
rs10735412	0.87[ASN][1000 genomes]
rs10735413	0.87[ASN][1000 genomes]
rs10746048	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10746050	0.85[ASN][1000 genomes]
rs10778440	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778441	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778442	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778446	0.87[ASN][1000 genomes]
rs10778447	0.86[ASN][1000 genomes]
rs10778448	0.90[ASN][1000 genomes]
rs10861505	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861511	0.85[ASN][1000 genomes]
rs10861512	0.91[ASN][1000 genomes]
rs10861513	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861514	0.95[ASN][1000 genomes]
rs10861515	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861517	0.87[ASN][1000 genomes]
rs11112724	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112729	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112730	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112731	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112733	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112736	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112737	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112739	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11112747	0.90[ASN][1000 genomes]
rs11833529	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12305658	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12314159	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370329	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421445	0.95[ASN][1000 genomes]
rs1421446	0.95[ASN][1000 genomes]
rs1421447	0.90[ASN][1000 genomes]
rs1477238	0.95[ASN][1000 genomes]
rs1477239	0.95[ASN][1000 genomes]
rs1477240	0.95[ASN][1000 genomes]
rs1477242	0.95[ASN][1000 genomes]
rs2052428	0.90[ASN][1000 genomes]
rs2111975	0.92[ASN][1000 genomes]
rs2111976	0.92[ASN][1000 genomes]
rs2374538	0.95[ASN][1000 genomes]
rs2888869	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4270016	0.87[ASN][1000 genomes]
rs4337138	0.87[ASN][1000 genomes]
rs4346066	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4430602	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4438139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499093	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516058	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4600310	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4609683	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4609684	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4964160	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964161	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964409	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4964411	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964413	0.89[ASN][1000 genomes]
rs4964414	0.81[ASN][1000 genomes]
rs4964415	0.90[ASN][1000 genomes]
rs4964416	0.88[ASN][1000 genomes]
rs6539230	0.88[ASN][1000 genomes]
rs6539231	0.88[ASN][1000 genomes]
rs7302776	0.85[ASN][1000 genomes]
rs7303862	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7307825	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307959	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7309925	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311274	0.85[ASN][1000 genomes]
rs7313258	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313292	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7485224	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs750207	0.90[ASN][1000 genomes]
rs750208	0.85[ASN][1000 genomes]
rs7954139	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954308	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7954604	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956555	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968050	0.90[ASN][1000 genomes]
rs7968132	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970318	0.88[ASN][1000 genomes]
rs7979193	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979632	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878612	0.88[ASN][1000 genomes]
rs9634186	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634187	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9634188	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9634189	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634227	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634228	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634229	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv15321	chr12:106162101-106182216	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106165600-106168200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:106166200-106168000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:106166400-106167800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:106166600-106167800	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:106166800-106167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:106166800-106167800	Enhancers	Fetal Muscle Leg	muscle
7	chr12:106166800-106167800	Enhancers	Left Ventricle	heart
8	chr12:106166800-106168200	Enhancers	Brain Anterior Caudate	brain
9	chr12:106167000-106167800	Enhancers	Brain Substantia Nigra	brain
10	chr12:106167200-106167800	Enhancers	Brain Germinal Matrix	brain
11	chr12:106167200-106168800	Weak transcription	Fetal Kidney	kidney
12	chr12:106167400-106167800	Enhancers	Lung	lung
13	chr12:106167600-106168800	Genic enhancers	HSMMtube	muscle
14	chr12:106167600-106169200	Weak transcription	Right Atrium	heart

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