Variant report

Variant	rs566237412
Chromosome Location	chr8:87081518-87081519
allele	A/G
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	TCF12	chr8:87081377-87081638	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr8:87081487-87081747	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:87081455-87082095	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:87081276-87081979	H1-hESC	embryonic stem cell:	n/a	chr8:87081650-87081659
5	MAX	chr8:87081326-87082025	H1-hESC	embryonic stem cell:	n/a	chr8:87081650-87081659
6	E2F6	chr8:87081288-87082136	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr8:87081352-87081824	H1-hESC	embryonic stem cell:	n/a	chr8:87081650-87081659
8	USF1	chr8:87081408-87081771	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr8:87080984-87081843	H1-hESC	embryonic stem cell:	n/a	chr8:87081255-87081267
10	ZNF143	chr8:87081296-87081748	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:87081253-87081568	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr8:87081467-87081963	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr8:87081214-87081622	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr8:87081415-87081971	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr8:87081436-87081897	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87079401..87081548-chr8:87093916..87096819,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V0D2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3350740	chr8:87080786-87083934	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 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	chr8:87076800-87087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:87080000-87081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:87081000-87081600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:87081000-87081600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
5	chr8:87081000-87081600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr8:87081000-87081600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr8:87081000-87081600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:87081000-87082000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr8:87081000-87082000	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr8:87081200-87081600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr8:87081200-87081600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:87081200-87081800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr8:87081200-87081800	Bivalent Enhancer	Fetal Heart	heart
14	chr8:87081200-87082200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr8:87081200-87082200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:87081400-87081600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr8:87081400-87081600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:87081400-87081600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:87081400-87081800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:87081400-87081800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr8:87081400-87081800	Bivalent Enhancer	Left Ventricle	heart
22	chr8:87081400-87082000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr8:87081400-87082000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:87081400-87082200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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