Variant report

Variant	rs72968612
Chromosome Location	chr3:118669405-118669406
allele	A/G
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs28392691	1.00[AMR][1000 genomes]
rs58420381	1.00[AMR][1000 genomes]
rs6768020	1.00[AMR][1000 genomes]
rs6796798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966899	1.00[AMR][1000 genomes]
rs72968606	1.00[AMR][1000 genomes]
rs72968632	1.00[AMR][1000 genomes]
rs72968654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970438	1.00[AMR][1000 genomes]
rs72970470	1.00[AMR][1000 genomes]
rs72970472	1.00[AMR][1000 genomes]
rs7623832	1.00[AMR][1000 genomes]
rs7624134	1.00[AMR][1000 genomes]
rs7625109	1.00[AMR][1000 genomes]
rs9289118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826100	1.00[AMR][1000 genomes]
rs9827711	1.00[AMR][1000 genomes]
rs9835052	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9840552	1.00[AMR][1000 genomes]
rs9841148	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9847137	1.00[AMR][1000 genomes]
rs9848498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9854365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9857367	1.00[AMR][1000 genomes]
rs9859319	1.00[AMR][1000 genomes]
rs9862313	1.00[AMR][1000 genomes]
rs9862556	1.00[AMR][1000 genomes]
rs9876041	1.00[AMR][1000 genomes]
rs9882006	1.00[AMR][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	chr3:118668000-118669800	Enhancers	Brain Substantia Nigra	brain
11	chr3:118668000-118670000	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:118668200-118670000	Enhancers	Brain Anterior Caudate	brain
13	chr3:118668400-118670600	Enhancers	Primary T cells from cord blood	blood
14	chr3:118668600-118670200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:118668800-118670200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:118668800-118673000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:118668800-118674200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:118669000-118670000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:118669000-118673000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:118669200-118673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:118669200-118677600	Weak transcription	Brain Angular Gyrus	brain
22	chr3:118669400-118669800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:118669400-118669800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:118669400-118671000	Enhancers	Fetal Heart	heart

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