Variant report

Variant	rs72968610
Chromosome Location	chr3:118669210-118669211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118654131..118656982-chr3:118667151..118670304,3	K562	blood:
2	chr3:118655482..118657417-chr3:118667049..118669730,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10212391	0.89[AFR][1000 genomes]
rs1158699	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485923	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492855	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12495725	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496820	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829165	0.91[AFR][1000 genomes]
rs16829179	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160054	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573387	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28592657	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821882	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41523948	0.84[AFR][1000 genomes]
rs4611809	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56728928	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58284747	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772441	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779428	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6785161	0.86[AFR][1000 genomes]
rs6795523	0.85[AFR][1000 genomes]
rs6807838	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966889	0.95[AFR][1000 genomes]
rs72968605	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629089	0.92[AFR][1000 genomes]
rs7633584	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644623	0.93[AFR][1000 genomes]
rs9817943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821022	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9821458	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828870	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833229	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834188	0.84[AFR][1000 genomes]
rs9836642	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837571	0.89[AFR][1000 genomes]
rs9854240	0.89[AFR][1000 genomes]
rs9855713	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860140	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861721	0.84[AFR][1000 genomes]
rs9867214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873807	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874208	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9874337	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118662000-118679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:118662000-118679800	Weak transcription	Ovary	ovary
3	chr3:118662800-118672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:118662800-118672400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:118664400-118676400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:118666200-118677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:118666400-118669800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:118666600-118669800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:118666600-118670200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:118666800-118669400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:118666800-118669400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:118668000-118669800	Enhancers	Brain Substantia Nigra	brain
13	chr3:118668000-118670000	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:118668200-118670000	Enhancers	Brain Anterior Caudate	brain
15	chr3:118668400-118670600	Enhancers	Primary T cells from cord blood	blood
16	chr3:118668600-118670200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:118668800-118670200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:118668800-118673000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:118668800-118674200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:118669000-118669400	Weak transcription	Fetal Heart	heart
21	chr3:118669000-118670000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:118669000-118673000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:118669200-118673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:118669200-118677600	Weak transcription	Brain Angular Gyrus	brain

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