Variant report

Variant	rs298214
Chromosome Location	chr8:65292781-65292782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE22-1	chr8:65291706-65295225	NONHSAT126961

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1440144	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823667	0.80[ASN][1000 genomes]
rs192721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218045	0.80[ASN][1000 genomes]
rs2246411	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2577887	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2577894	0.80[ASN][1000 genomes]
rs2577897	0.85[ASN][1000 genomes]
rs2600466	0.80[ASN][1000 genomes]
rs2600467	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2600470	0.85[ASN][1000 genomes]
rs2600471	0.88[ASN][1000 genomes]
rs2600472	0.88[ASN][1000 genomes]
rs2612589	0.80[ASN][1000 genomes]
rs2612590	0.80[ASN][1000 genomes]
rs2612600	0.88[ASN][1000 genomes]
rs2612603	0.82[ASN][1000 genomes]
rs298176	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298177	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298179	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298182	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298183	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298184	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298185	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298186	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298196	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298197	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298198	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298199	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298200	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298203	0.83[EUR][1000 genomes]
rs298207	0.84[EUR][1000 genomes]
rs298210	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298216	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110288	0.81[ASN][1000 genomes]
rs3110289	0.87[ASN][1000 genomes]
rs59712423	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv523097	chr8:65283691-65295491	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65286000-65293400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:65290400-65293800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:65290600-65293400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
4	chr8:65290600-65294600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
5	chr8:65290600-65295000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65290600-65296800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:65290800-65293200	Active TSS	Brain Angular Gyrus	brain
8	chr8:65291200-65294600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:65291800-65293400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:65292200-65294200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:65292400-65292800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:65292400-65292800	Enhancers	Fetal Brain Male	brain
13	chr8:65292600-65292800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr8:65292600-65293000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr8:65292600-65293200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr8:65292600-65293200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr8:65292600-65293200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr8:65292600-65293400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:65292600-65293400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:65292600-65293600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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