Variant report

Variant	rs192721
Chromosome Location	chr8:65291053-65291054
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr8:65289051-65292843	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr8:65288951-65295304	H1-neurons	neurons:	n/a	n/a
3	CTBP2	chr8:65290082-65291212	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr8:65289973-65291089	H1-hESC	embryonic stem cell:	n/a	chr8:65290831-65290841 chr8:65290396-65290414
5	SIN3A	chr8:65288981-65291178	H1-hESC	embryonic stem cell:	n/a	chr8:65289118-65289132
6	YY1	chr8:65290071-65291097	H1-hESC	embryonic stem cell:	n/a	chr8:65290409-65290423
7	POLR2A	chr8:65280622-65295094	H1-neurons	neurons:	n/a	n/a
8	REST	chr8:65278315-65295919	H1-neurons	neurons:	n/a	chr8:65287965-65287979 chr8:65292640-65292660 chr8:65287971-65287980 chr8:65282886-65282899 chr8:65292640-65292653 chr8:65292646-65292660 chr8:65284165-65284179 chr8:65286571-65286584 chr8:65282249-65282262 chr8:65292655-65292668 chr8:65290755-65290773 chr8:65292648-65292658 chr8:65286394-65286407 chr8:65282341-65282354 chr8:65292640-65292660 chr8:65282879-65282892 chr8:65289131-65289149 chr8:65284167-65284175 chr8:65281972-65281982 chr8:65282341-65282354 chr8:65287965-65287985 chr8:65292645-65292654 chr8:65282976-65282989 chr8:65289117-65289137 chr8:65292641-65292659 chr8:65289117-65289131 chr8:65283924-65283937 chr8:65292640-65292649 chr8:65292640-65292660 chr8:65292652-65292665 chr8:65287965-65287985 chr8:65282155-65282168 chr8:65282155-65282168 chr8:65281962-65281975 chr8:65292643-65292656 chr8:65289117-65289137 chr8:65292643-65292656 chr8:65293231-65293249 chr8:65289121-65289134 chr8:65287003-65287017
9	JUND	chr8:65290728-65291135	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr8:65290103-65291095	H1-hESC	embryonic stem cell:	n/a	chr8:65290747-65290757 chr8:65290534-65290544
11	CHD2	chr8:65290509-65291161	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr8:65290557-65291068	H1-hESC	embryonic stem cell:	n/a	chr8:65290741-65290751
13	TBP	chr8:65290717-65291063	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr8:65283352-65292354	H1-neurons	neurons:	n/a	chr8:65287965-65287979 chr8:65287971-65287980 chr8:65284165-65284179 chr8:65286571-65286584 chr8:65290755-65290773 chr8:65286394-65286407 chr8:65289131-65289149 chr8:65284167-65284175 chr8:65287965-65287985 chr8:65289117-65289137 chr8:65289117-65289131 chr8:65283924-65283937 chr8:65287965-65287985 chr8:65289117-65289137 chr8:65289121-65289134 chr8:65287003-65287017
15	SP1	chr8:65290585-65291061	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE22-1	chr8:65290616-65291384	XLOC_006823
2	lnc-BHLHE22-1	chr8:65290616-65291384	XLOC_006823
3	lnc-BHLHE22-1	chr8:65290616-65291388	ENSG00000254377.1
4	lnc-BHLHE22-1	chr8:65290616-65291386	NONHSAT126956
5	lnc-BHLHE22-1	chr8:65290616-65291386	NONHSAT126958
6	lnc-BHLHE22-1	chr8:65290616-65291391	NR_034103
7	lnc-BHLHE22-1	chr8:65290616-65291391	NR_034102
8	lnc-BHLHE22-1	chr8:65290616-65291391	NR_109793

Variant related genes	Relation type
MIR124-2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10098936	1.00[AFR][1000 genomes]
rs1440144	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823667	0.80[ASN][1000 genomes]
rs2218045	0.80[ASN][1000 genomes]
rs2246411	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2577887	1.00[AFR][1000 genomes];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	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298182	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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298197	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298198	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	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs298210	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298215	1.00[AFR][1000 genomes];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[AFR][1000 genomes];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:5 , 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	nsv1031877	chr8:65240464-65291136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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:29 , 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	chr8:65289000-65291200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:65289000-65292400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr8:65289400-65291400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:65289800-65291200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:65290400-65291400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr8:65290400-65291800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr8:65290400-65292200	Active TSS	Brain Anterior Caudate	brain
9	chr8:65290400-65293800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:65290600-65291200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:65290600-65291200	Enhancers	Fetal Brain Male	brain
12	chr8:65290600-65291400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:65290600-65293400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
14	chr8:65290600-65294600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
15	chr8:65290600-65295000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:65290600-65296800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:65290800-65291200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr8:65290800-65291600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr8:65290800-65293200	Active TSS	Brain Angular Gyrus	brain
20	chr8:65291000-65291200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:65291000-65291200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr8:65291000-65291200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:65291000-65291200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:65291000-65291600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr8:65291000-65291600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr8:65291000-65291600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:65291000-65291800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:65291000-65291800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr8:65291000-65292400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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