Variant report

Variant	rs569103573
Chromosome Location	chr8:58404091-58404092
allele	C/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	chr8:58403960-58404110	GM12866	blood:	n/a	chr8:58404054-58404075
2	SMC3	chr8:58403711-58404407	SK-N-SH	brain:	n/a	chr8:58404061-58404075
3	CTCF	chr8:58403973-58404106	GM12891	blood:	n/a	chr8:58404054-58404075
4	CTCF	chr8:58404056-58404106	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr8:58403980-58404130	GM12872	blood:	n/a	chr8:58404054-58404075
6	CTCF	chr8:58403968-58404148	IMR90	lung:	n/a	chr8:58404054-58404075
7	CTCF	chr8:58404040-58404190	A549	lung:	n/a	chr8:58404054-58404075
8	CTCF	chr8:58404000-58404150	GM12865	blood:	n/a	chr8:58404054-58404075
9	CTCF	chr8:58403935-58404197	Gliobla	brain:	n/a	chr8:58404054-58404075
10	GTF2F1	chr8:58403938-58404132	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:58404000-58404150	HL-60	blood:	n/a	chr8:58404054-58404075
12	YY1	chr8:58403933-58404152	A549	lung:	n/a	n/a
13	RAD21	chr8:58403833-58404275	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr8:58404020-58404170	HFF-Myc	foreskin:	n/a	chr8:58404054-58404075
15	CTCF	chr8:58404000-58404150	HCFaa	heart:	n/a	chr8:58404054-58404075
16	YY1	chr8:58403869-58404125	GM12878	blood:	n/a	n/a
17	CTCF	chr8:58403987-58404110	H1-hESC	embryonic stem cell:	n/a	chr8:58404054-58404075
18	CTCF	chr8:58403960-58404110	HEK293	kidney:	n/a	chr8:58404054-58404075
19	RAD21	chr8:58403806-58404273	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:58404024-58404115	GM10266	blood:	n/a	chr8:58404054-58404075
21	CTCF	chr8:58404020-58404170	AG04450	lung:	n/a	chr8:58404054-58404075
22	CTCF	chr8:58403931-58404169	H1-hESC	embryonic stem cell:	n/a	chr8:58404054-58404075
23	CTCF	chr8:58403998-58404123	Kidney_OC	kidney:	n/a	chr8:58404054-58404075
24	CTCF	chr8:58403980-58404130	NHDF-neo	bronchial:	n/a	chr8:58404054-58404075
25	CTCF	chr8:58403970-58404158	SK-N-SH_RA	brain:	n/a	chr8:58404054-58404075
26	CTCF	chr8:58403974-58404132	GM19239	blood:	n/a	chr8:58404054-58404075
27	RAD21	chr8:58403919-58404203	HepG2	liver:	n/a	n/a
28	CTCF	chr8:58403980-58404130	AG10803	skin:	n/a	chr8:58404054-58404075
29	CTCF	chr8:58404000-58404150	BE2_C	brain:	n/a	chr8:58404054-58404075
30	CTCF	chr8:58403653-58404308	SK-N-SH	brain:	n/a	chr8:58404054-58404075
31	CTCF	chr8:58403980-58404130	HPF	lung:	n/a	chr8:58404054-58404075
32	CTCF	chr8:58403980-58404130	AG09319	gingival:	n/a	chr8:58404054-58404075
33	CTCF	chr8:58403960-58404110	AG04450	lung:	n/a	chr8:58404054-58404075
34	CTCF	chr8:58403980-58404130	GM12801	blood:	n/a	chr8:58404054-58404075
35	YY1	chr8:58403877-58404141	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr8:58403915-58404114	GM12892	blood:	n/a	n/a
37	CTCF	chr8:58403956-58404176	Hela-S3	cervix:	n/a	chr8:58404054-58404075
38	RAD21	chr8:58403935-58404286	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr8:58404000-58404150	RPTEC	kidney:	n/a	chr8:58404054-58404075
40	CTCF	chr8:58403980-58404130	HRPEpiC	eye:	n/a	chr8:58404054-58404075
41	CTCF	chr8:58403952-58404187	LNCaP	prostate:	n/a	chr8:58404054-58404075
42	CTCF	chr8:58404000-58404150	Caco-2	colon:	n/a	chr8:58404054-58404075
43	CTCF	chr8:58403859-58404240	H1-hESC	embryonic stem cell:	n/a	chr8:58404054-58404075
44	CTCF	chr8:58404000-58404177	Spleen_OC	spleen:	n/a	chr8:58404054-58404075
45	CTCF	chr8:58404040-58404190	HMEC	breast:	n/a	chr8:58404054-58404075
46	CTCF	chr8:58404020-58404170	GM12872	blood:	n/a	chr8:58404054-58404075
47	CTCF	chr8:58403980-58404130	HRE	kidney:	n/a	chr8:58404054-58404075
48	CTCF	chr8:58404000-58404150	SK-N-SH_RA	brain:	n/a	chr8:58404054-58404075
49	CTCF	chr8:58403980-58404130	Caco-2	colon:	n/a	chr8:58404054-58404075
50	CTCF	chr8:58403980-58404130	GM12875	blood:	n/a	chr8:58404054-58404075

No.	Distal block	Cell Line	Cell type
1	chr8:58332707..58333926-chr8:58403565..58404649,11	MCF-7	breast:
2	chr8:58334906..58335645-chr8:58403623..58404511,2	MCF-7	breast:
3	chr8:58332821..58333771-chr8:58403706..58404764,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253821	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1029189	chr8:58336604-58409288	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv831322	chr8:58389416-58551242	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1015600	chr8:58400271-58548970	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58403600-58404200	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:58403800-58404200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:58403800-58404200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:58403800-58404400	Enhancers	Liver	Liver
5	chr8:58404000-58408000	Weak transcription	Muscle Satellite Cultured Cells	--

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