Variant report

Variant	rs554318611
Chromosome Location	chr8:58106114-58106115
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	HMGN3	chr8:58105784-58106166	K562	blood:	n/a	n/a
2	RCOR1	chr8:58105914-58106205	K562	blood:	n/a	n/a
3	ELF1	chr8:58105894-58106150	K562	blood:	n/a	n/a
4	ZBTB33	chr8:58105860-58106248	K562	blood:	n/a	chr8:58106099-58106109
5	USF1	chr8:58105826-58106274	K562	blood:	n/a	n/a
6	POLR2A	chr8:58105774-58106563	K562	blood:	n/a	n/a
7	CTCFL	chr8:58105985-58106146	K562	blood:	n/a	chr8:58106112-58106121
8	NRF1	chr8:58105956-58106285	K562	blood:	n/a	chr8:58106129-58106143 chr8:58106132-58106141 chr8:58106134-58106143 chr8:58106101-58106112 chr8:58106132-58106146 chr8:58106131-58106142 chr8:58106132-58106143
9	POLR2A	chr8:58105877-58106270	K562	blood:	n/a	n/a
10	CTCF	chr8:58105992-58106227	K562	blood:	n/a	chr8:58106108-58106121
11	CTCFL	chr8:58106011-58106160	K562	blood:	n/a	chr8:58106112-58106121
12	MYC	chr8:58105759-58106491	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
13	ZBTB33	chr8:58105806-58106242	K562	blood:	n/a	chr8:58106099-58106109
14	MAX	chr8:58105922-58106175	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
15	HCFC1	chr8:58105853-58106256	K562	blood:	n/a	n/a
16	MYC	chr8:58105677-58106296	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
17	MAX	chr8:58105825-58106262	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
18	CBX3	chr8:58105849-58106177	K562	blood:	n/a	n/a
19	TBP	chr8:58105980-58106247	K562	blood:	n/a	n/a
20	POLR2A	chr8:58105826-58106574	K562	blood:	n/a	n/a
21	MAFF	chr8:58105979-58106221	K562	blood:	n/a	n/a
22	MAZ	chr8:58105673-58106399	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
23	BHLHE40	chr8:58105853-58106191	K562	blood:	n/a	n/a
24	E2F6	chr8:58105733-58106515	K562	blood:	n/a	chr8:58106433-58106442 chr8:58106105-58106115 chr8:58106133-58106142 chr8:58106435-58106444
25	EGR1	chr8:58106002-58106255	K562	blood:	n/a	chr8:58106133-58106142
26	POLR2A	chr8:58106049-58106300	K562	blood:	n/a	n/a
27	YY1	chr8:58105949-58106175	K562	blood:	n/a	chr8:58105970-58105981
28	MAX	chr8:58105768-58106293	K562	blood:	n/a	chr8:58106034-58106044 chr8:58106035-58106044 chr8:58106036-58106043 chr8:58106034-58106044 chr8:58106035-58106044
29	POLR2A	chr8:58105840-58106520	K562	blood:	n/a	n/a
30	E2F6	chr8:58105949-58106146	K562	blood:	n/a	chr8:58106105-58106115 chr8:58106133-58106142
31	IRF1	chr8:58106045-58106192	K562	blood:	n/a	n/a
32	GTF2F1	chr8:58106004-58106115	K562	blood:	n/a	n/a
33	MYC	chr8:58106074-58106128	K562	blood:	n/a	n/a
34	HEY1	chr8:58105799-58106263	K562	blood:	n/a	n/a
35	ETS1	chr8:58105886-58106248	GM12878	blood:	n/a	n/a
36	CHD2	chr8:58105531-58106370	K562	blood:	n/a	n/a
37	JUND	chr8:58105872-58106546	K562	blood:	n/a	chr8:58106434-58106443
38	EGR1	chr8:58105941-58106208	K562	blood:	n/a	chr8:58106133-58106142
39	E2F6	chr8:58105858-58106232	K562	blood:	n/a	chr8:58106105-58106115 chr8:58106133-58106142

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58106094-58106144	SK-N-MC	brain:	n/a
2	chr8:58106094-58106144	NHBE	bronchial:	n/a
3	chr8:58106094-58106144	SK-N-SH	brain:	n/a
4	chr8:58106094-58106144	GM06990	blood:	n/a
5	chr8:58106094-58106144	AG04449	skin:	fetal
6	chr8:58106094-58106144	SKMC	muscle:	n/a
7	chr8:58106094-58106144	AG09309	skin:	n/a
8	chr8:58106094-58106144	SK-N-SH_RA	brain:	n/a
9	chr8:58106094-58106144	Hepatocyte	liver:	n/a
10	chr8:58106094-58106144	HEK293	kidney:	embryo
11	chr8:58106094-58106144	AG10803	skin:	n/a
12	chr8:58106094-58106144	HL-60	blood:	n/a
13	chr8:58106094-58106144	HCT-116	colon:	n/a
14	chr8:58106094-58106144	HRCEpiC	kidney:	n/a
15	chr8:58106094-58106144	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:58106094-58106144	IMR90	lung:	fetal
17	chr8:58106094-58106144	U87	brain:	n/a
18	chr8:58106094-58106144	GM12878	blood:	n/a
19	chr8:58106094-58106144	BE2_C	brain:	n/a
20	chr8:58106094-58106144	BJ	skin:	n/a
21	chr8:58106094-58106144	CMK	blood:	n/a
22	chr8:58106094-58106144	MCF10A-Er-Src	breast:	n/a
23	chr8:58106094-58106144	HIPEpiC	eye:	n/a
24	chr8:58106094-58106144	HCPEpiC	choroid plexus:	n/a
25	chr8:58106094-58106144	HUVEC	blood vessel:	n/a
26	chr8:58106094-58106144	A549	lung:	n/a
27	chr8:58106094-58106144	K562	blood:	n/a
28	chr8:58106094-58106144	PFSK-1	brain:	n/a
29	chr8:58106094-58106144	AG09319	gingival:	n/a
30	chr8:58106094-58106144	H1-hESC	embryonic stem cell:	embryo
31	chr8:58106094-58106144	ECC-1	luminal epithelium:	n/a
32	chr8:58106094-58106144	SAEC	small airway:	n/a
33	chr8:58106094-58106144	HCM	heart:	n/a
34	chr8:58106094-58106144	AoSMC	blood vessel:	n/a
35	chr8:58106094-58106144	HMEC	breast:	n/a
36	chr8:58106094-58106144	T-47D	breast:	n/a
37	chr8:58106094-58106144	Jurkat	blood:	n/a
38	chr8:58106094-58106144	NH-A	brain:	n/a
39	chr8:58106094-58106144	LNCaP	prostate:	n/a
40	chr8:58106094-58106144	ovcar-3	ovarian:	n/a
41	chr8:58106094-58106144	Hela-S3	cervix:	n/a
42	chr8:58106094-58106144	HRPEpiC	eye:	n/a
43	chr8:58106094-58106144	GM12892	blood:	n/a
44	chr8:58106094-58106144	NT2-D1	testis:	n/a
45	chr8:58106094-58106144	MCF-7	breast:	n/a
46	chr8:58106094-58106144	NHDF-neo	bronchial:	n/a
47	chr8:58106094-58106144	HEEpiC	esophagus:	n/a
48	chr8:58106094-58106144	HepG2	liver:	n/a
49	chr8:58106094-58106144	HRE	kidney:	n/a
50	chr8:58106094-58106144	RPTEC	kidney:	n/a

Variant related genes	Relation type
ENSG00000253301	TF binding region
ENSG00000253301	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3432915	chr8:58055026-58271178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1793550	chr8:58063507-58215957	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1804272	chr8:58063507-58215957	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1814738	chr8:58063507-58215957	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv428200	chr8:58063507-58215957	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv1834359	chr8:58077247-58127527	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1837249	chr8:58077247-58130784	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1034068	chr8:58078547-58161439	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1028917	chr8:58080796-58158408	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv10908	chr8:58085198-58134668	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv831321	chr8:58086885-58237744	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv1816189	chr8:58093977-58126589	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1800867	chr8:58104763-58148292	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3385679	chr8:58105348-58107846	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58106000-58106200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:58106000-58107200	Active TSS	K562	blood

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