Variant report

Variant	rs344211
Chromosome Location	chr8:62940147-62940148
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	chr8:62938150..62940278-chr8:62941501..62943278,2	K562	blood:
2	chr8:62938324..62940496-chr8:62944445..62947217,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10108997	0.82[EUR][1000 genomes]
rs1400512	0.89[ASN][1000 genomes]
rs1516994	0.91[ASN][1000 genomes]
rs1516995	0.89[ASN][1000 genomes]
rs1546639	0.89[ASN][1000 genomes]
rs1546640	0.89[ASN][1000 genomes]
rs1607125	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2176342	0.84[ASN][1000 genomes]
rs2351083	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28634373	0.89[ASN][1000 genomes]
rs28804830	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs344205	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344208	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344237	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344243	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344244	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344249	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344253	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344263	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344264	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344265	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344266	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs344267	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs344271	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35035266	0.89[ASN][1000 genomes]
rs35999143	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55819473	0.89[ASN][1000 genomes]
rs56098200	0.87[ASN][1000 genomes]
rs57027979	0.89[ASN][1000 genomes]
rs57232729	0.89[ASN][1000 genomes]
rs59040850	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59691363	0.89[ASN][1000 genomes]
rs61402923	0.87[ASN][1000 genomes]
rs61475697	0.87[ASN][1000 genomes]
rs62508546	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7814557	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7818829	0.89[ASN][1000 genomes]
rs7832965	0.89[ASN][1000 genomes]
rs9694964	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs992841	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv520442	chr8:62928715-62962071	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62939200-62940200	Enhancers	Fetal Brain Male	brain
2	chr8:62939600-62940600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:62939600-62940600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:62939600-62940800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:62939800-62940400	Active TSS	Fetal Brain Female	brain
6	chr8:62939800-62940600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr8:62939800-62941000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:62940000-62940200	Active TSS	Brain Angular Gyrus	brain
9	chr8:62940000-62940200	Active TSS	Fetal Stomach	stomach
10	chr8:62940000-62940200	Active TSS	NH-A	brain
11	chr8:62940000-62940400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:62940000-62940400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr8:62940000-62940400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:62940000-62940400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:62940000-62940400	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:62940000-62940400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
17	chr8:62940000-62940600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:62940000-62940600	Active TSS	Brain Anterior Caudate	brain
19	chr8:62940000-62940600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr8:62940000-62940600	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:62940000-62940600	Enhancers	HSMM	muscle
22	chr8:62940000-62940800	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:62940000-62941000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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