Variant report

Variant	rs56325221
Chromosome Location	chr8:58130352-58130353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr8:58130120-58130604	A549	lung:	n/a	n/a
2	REST	chr8:58130162-58130421	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58130323-58130373	LNCaP	prostate:	n/a
2	chr8:58130323-58130373	ovcar-3	ovarian:	n/a
3	chr8:58130323-58130373	BJ	skin:	n/a
4	chr8:58130323-58130373	HCM	heart:	n/a
5	chr8:58130323-58130373	AG10803	skin:	n/a
6	chr8:58130323-58130373	Hela-S3	cervix:	n/a
7	chr8:58130323-58130373	NH-A	brain:	n/a
8	chr8:58130323-58130373	MCF-7	breast:	n/a
9	chr8:58130323-58130373	AG09319	gingival:	n/a
10	chr8:58130323-58130373	HL-60	blood:	n/a
11	chr8:58130323-58130373	GM12891	blood:	n/a
12	chr8:58130323-58130373	T-47D	breast:	n/a
13	chr8:58130323-58130373	HAEpiC	amniotic membrane:	n/a
14	chr8:58130323-58130373	GM06990	blood:	n/a
15	chr8:58130323-58130373	AG09309	skin:	n/a
16	chr8:58130323-58130373	HMEC	breast:	n/a
17	chr8:58130323-58130373	H1-hESC	embryonic stem cell:	embryo
18	chr8:58130323-58130373	NT2-D1	testis:	n/a
19	chr8:58130323-58130373	IMR90	lung:	fetal
20	chr8:58130323-58130373	NHBE	bronchial:	n/a
21	chr8:58130323-58130373	PFSK-1	brain:	n/a
22	chr8:58130323-58130373	HRCEpiC	kidney:	n/a
23	chr8:58130323-58130373	NHDF-neo	bronchial:	n/a
24	chr8:58130323-58130373	Jurkat	blood:	n/a
25	chr8:58130323-58130373	HNPCEpiC	eye:	n/a
26	chr8:58130323-58130373	HEK293	kidney:	embryo
27	chr8:58130323-58130373	GM12878	blood:	n/a
28	chr8:58130323-58130373	HRPEpiC	eye:	n/a
29	chr8:58130323-58130373	MCF10A-Er-Src	breast:	n/a
30	chr8:58130323-58130373	SK-N-SH_RA	brain:	n/a
31	chr8:58130323-58130373	HIPEpiC	eye:	n/a
32	chr8:58130323-58130373	BE2_C	brain:	n/a
33	chr8:58130323-58130373	SK-N-SH	brain:	n/a
34	chr8:58130323-58130373	SKMC	muscle:	n/a
35	chr8:58130323-58130373	HEEpiC	esophagus:	n/a
36	chr8:58130323-58130373	ECC-1	luminal epithelium:	n/a
37	chr8:58130323-58130373	PrEC	prostate:	n/a
38	chr8:58130323-58130373	AoSMC	blood vessel:	n/a
39	chr8:58130323-58130373	AG04450	lung:	fetal
40	chr8:58130323-58130373	HRE	kidney:	n/a
41	chr8:58130323-58130373	CMK	blood:	n/a
42	chr8:58130323-58130373	HUVEC	blood vessel:	n/a
43	chr8:58130323-58130373	SK-N-MC	brain:	n/a
44	chr8:58130323-58130373	AG04449	skin:	fetal
45	chr8:58130323-58130373	RPTEC	kidney:	n/a
46	chr8:58130323-58130373	Hepatocyte	liver:	n/a
47	chr8:58130323-58130373	NB4	blood:	n/a
48	chr8:58130323-58130373	PANC-1	pancreas:	n/a
49	chr8:58130323-58130373	GM12892	blood:	n/a
50	chr8:58130323-58130373	HCPEpiC	choroid plexus:	n/a

No data

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

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11774303	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992943	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921693	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16921694	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16921695	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16921701	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2017474	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028533	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28408163	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408204	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28449911	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28548459	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28578130	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28690714	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55868332	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56406973	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57445614	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59079777	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59139449	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59545981	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60398072	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471591	0.82[EUR][1000 genomes]
rs6980581	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980596	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984401	0.85[EUR][1000 genomes]
rs6984434	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985921	0.80[EUR][1000 genomes]
rs6985975	0.80[EUR][1000 genomes]
rs6989809	0.82[ASN][1000 genomes]
rs6997857	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999005	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6999376	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7001233	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7007444	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72649134	0.82[ASN][1000 genomes]
rs72649136	0.84[ASN][1000 genomes]
rs72649137	0.84[ASN][1000 genomes]
rs72649138	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72649139	0.84[ASN][1000 genomes]
rs7814991	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823911	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837180	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv824637	chr8:58108164-58138395	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv1813223	chr8:58108686-58130419	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv8351	chr8:58111632-58138437	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1803035	chr8:58113182-58130419	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv1829572	chr8:58113182-58130419	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1804436	chr8:58113182-58141141	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1847325	chr8:58114548-58134036	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv972527	chr8:58114741-58139696	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv1835597	chr8:58114743-58130784	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv819305	chr8:58114782-58131220	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv12323	chr8:58114793-58199474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	esv16967	chr8:58114873-58134668	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv1835610	chr8:58114947-58131877	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv1840955	chr8:58115815-58130784	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv1840630	chr8:58116788-58130784	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	esv1841483	chr8:58116788-58131877	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	esv33623	chr8:58118312-58143734	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv611407	chr8:58119198-58131877	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv971718	chr8:58121099-58130658	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	esv1839988	chr8:58122510-58130784	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv1819400	chr8:58123028-58130496	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv1815576	chr8:58126589-58130496	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1823094	chr8:58126589-58130496	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1839727	chr8:58126589-58130784	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1823294	chr8:58126589-58131877	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	esv1816121	chr8:58127527-58130784	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1819350	chr8:58127527-58130784	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58128000-58137400	Weak transcription	Fetal Kidney	kidney
2	chr8:58128000-58137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:58129800-58135600	Enhancers	Fetal Muscle Leg	muscle
4	chr8:58130000-58132400	Enhancers	Fetal Muscle Trunk	muscle

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