Variant report

Variant	rs527546911
Chromosome Location	chr8:87100872-87100873
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	CTCF	chr8:87100860-87101010	GM12872	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
2	CTCF	chr8:87100867-87101076	Kidney_OC	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
3	CTCF	chr8:87100869-87101079	LNCaP	prostate:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
4	CTCF	chr8:87100770-87101125	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
5	CTCF	chr8:87100867-87101073	Gliobla	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
6	RAD21	chr8:87100764-87101144	IMR90	lung:	n/a	chr8:87100966-87100985
7	CTCF	chr8:87100759-87101162	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
8	CTCF	chr8:87100843-87101103	MCF-7	breast:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
9	CTCF	chr8:87100740-87101182	GM12878	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
10	SMC3	chr8:87100733-87101177	SK-N-SH	brain:	n/a	chr8:87100970-87100984
11	MAFF	chr8:87100815-87101016	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:87100831-87101147	K562	blood:	n/a	n/a
13	FOS	chr8:87100711-87100903	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr8:87100843-87101140	SK-N-SH_RA	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
15	CTCF	chr8:87100755-87101256	K562	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
16	CTCF	chr8:87100860-87101010	SK-N-SH_RA	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
17	CTCF	chr8:87100860-87101010	HCM	heart:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
18	CTCF	chr8:87100860-87101010	AG04450	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
19	SMC3	chr8:87100769-87101120	HepG2	liver:	n/a	chr8:87100970-87100984
20	CTCF	chr8:87100862-87101081	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
21	CTCF	chr8:87100860-87101010	RPTEC	kidney:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
22	RAD21	chr8:87100709-87101226	ECC-1	luminal epithelium:	n/a	chr8:87100966-87100985
23	CTCF	chr8:87100860-87101010	HPF	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
24	RAD21	chr8:87100503-87101195	SK-N-SH	brain:	n/a	chr8:87100966-87100985
25	RAD21	chr8:87100666-87101243	HCT-116	colon:	n/a	chr8:87100966-87100985
26	CTCF	chr8:87100840-87100990	NHEK	skin:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
27	MYC	chr8:87100793-87101238	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr8:87100678-87101175	H1-hESC	embryonic stem cell:	n/a	chr8:87100966-87100985
29	RAD21	chr8:87100731-87101167	H1-hESC	embryonic stem cell:	n/a	chr8:87100966-87100985
30	ARID3A	chr8:87100789-87101048	HepG2	liver:	n/a	n/a
31	CTCF	chr8:87100860-87101010	SAEC	small airway:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
32	CTCF	chr8:87100840-87100990	HL-60	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
33	RAD21	chr8:87100780-87101115	A549	lung:	n/a	chr8:87100966-87100985
34	RAD21	chr8:87100827-87101107	GM12878	blood:	n/a	chr8:87100966-87100985
35	CTCF	chr8:87100840-87100990	BE2_C	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
36	CTCF	chr8:87100508-87101601	A549	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
37	CTCF	chr8:87100834-87101041	HepG2	liver:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
38	RAD21	chr8:87100820-87101129	SK-N-SH_RA	brain:	n/a	chr8:87100966-87100985
39	RAD21	chr8:87100684-87101175	H1-hESC	embryonic stem cell:	n/a	chr8:87100966-87100985
40	CTCF	chr8:87100781-87101176	IMR90	lung:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
41	SMC3	chr8:87100802-87101116	K562	blood:	n/a	chr8:87100970-87100984
42	CTCF	chr8:87100544-87101190	SK-N-SH	brain:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
43	CTCF	chr8:87100840-87100990	WERI-Rb-1	eye:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
44	RAD21	chr8:87100801-87101135	K562	blood:	n/a	chr8:87100966-87100985
45	CTCF	chr8:87100803-87101085	ECC-1	luminal epithelium:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
46	CTCF	chr8:87100860-87101010	GM12864	blood:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
47	SMC3	chr8:87100743-87101172	Hela-S3	cervix:	n/a	chr8:87100970-87100984
48	CTCF	chr8:87100713-87101150	H1-hESC	embryonic stem cell:	n/a	chr8:87100969-87100985 chr8:87100968-87100986 chr8:87100963-87100984
49	RAD21	chr8:87100730-87101184	A549	lung:	n/a	chr8:87100966-87100985
50	RAD21	chr8:87100795-87101150	HepG2	liver:	n/a	chr8:87100966-87100985

Variant related genes	Relation type
PSKH2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
5	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
6	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
7	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
8	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
9	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
10	esv3493409	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3493410	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv2623751	chr8:87098486-87100951	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3499326	chr8:87098536-87102734	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3499328	chr8:87098986-87101834	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3499331	chr8:87099099-87101690	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2143067	chr8:87099552-87100976	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3479557	chr8:87099592-87100923	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3499327	chr8:87099614-87100921	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3499333	chr8:87099629-87100893	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv3479555	chr8:87099637-87100891	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87082400-87126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87100200-87102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:87100400-87101000	Enhancers	Fetal Lung	lung
4	chr8:87100600-87101000	Enhancers	Adipose Nuclei	Adipose
5	chr8:87100600-87101000	Enhancers	Brain Anterior Caudate	brain
6	chr8:87100600-87101000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:87100600-87101000	Enhancers	Stomach Mucosa	stomach
8	chr8:87100600-87101000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:87100600-87105800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:87100800-87101000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:87100800-87101200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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