Variant report

Variant	rs66936919
Chromosome Location	chr8:58172868-58172869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58172855-58172905	HRCEpiC	kidney:	n/a
2	chr8:58172855-58172905	GM19239	blood:	n/a
3	chr8:58172855-58172905	HNPCEpiC	eye:	n/a
4	chr8:58172855-58172905	U87	brain:	n/a
5	chr8:58172855-58172905	HCM	heart:	n/a
6	chr8:58172855-58172905	SK-N-MC	brain:	n/a
7	chr8:58172855-58172905	PANC-1	pancreas:	n/a
8	chr8:58172855-58172905	PrEC	prostate:	n/a
9	chr8:58172855-58172905	HMEC	breast:	n/a
10	chr8:58172855-58172905	H1-hESC	embryonic stem cell:	embryo
11	chr8:58172855-58172905	HCF	heart:	n/a
12	chr8:58172855-58172905	IMR90	lung:	fetal
13	chr8:58172855-58172905	HEEpiC	esophagus:	n/a
14	chr8:58172855-58172905	PFSK-1	brain:	n/a
15	chr8:58172855-58172905	AG04450	lung:	fetal
16	chr8:58172855-58172905	HL-60	blood:	n/a
17	chr8:58172855-58172905	HepG2	liver:	n/a
18	chr8:58172855-58172905	SAEC	small airway:	n/a
19	chr8:58172855-58172905	AG09309	skin:	n/a
20	chr8:58172855-58172905	SK-N-SH	brain:	n/a
21	chr8:58172855-58172905	AG09319	gingival:	n/a
22	chr8:58172855-58172905	HRPEpiC	eye:	n/a
23	chr8:58172855-58172905	HAEpiC	amniotic membrane:	n/a
24	chr8:58172855-58172905	HCPEpiC	choroid plexus:	n/a
25	chr8:58172855-58172905	BE2_C	brain:	n/a
26	chr8:58172855-58172905	Jurkat	blood:	n/a
27	chr8:58172855-58172905	AoSMC	blood vessel:	n/a
28	chr8:58172855-58172905	Caco-2	colon:	n/a
29	chr8:58172855-58172905	NB4	blood:	n/a
30	chr8:58172855-58172905	AG04449	skin:	fetal
31	chr8:58172855-58172905	ProgFib	skin:	n/a
32	chr8:58172855-58172905	K562	blood:	n/a
33	chr8:58172855-58172905	Hepatocyte	liver:	n/a
34	chr8:58172855-58172905	AG10803	skin:	n/a
35	chr8:58172855-58172905	GM12891	blood:	n/a
36	chr8:58172855-58172905	GM12878	blood:	n/a
37	chr8:58172855-58172905	NH-A	brain:	n/a
38	chr8:58172855-58172905	ovcar-3	ovarian:	n/a
39	chr8:58172855-58172905	MCF10A-Er-Src	breast:	n/a
40	chr8:58172855-58172905	BJ	skin:	n/a
41	chr8:58172855-58172905	HIPEpiC	eye:	n/a
42	chr8:58172855-58172905	Hela-S3	cervix:	n/a
43	chr8:58172855-58172905	A549	lung:	n/a
44	chr8:58172855-58172905	CMK	blood:	n/a
45	chr8:58172855-58172905	HEK293	kidney:	embryo
46	chr8:58172855-58172905	T-47D	breast:	n/a
47	chr8:58172855-58172905	HRE	kidney:	n/a
48	chr8:58172855-58172905	ECC-1	luminal epithelium:	n/a
49	chr8:58172855-58172905	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:58172855-58172905	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000253614	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10504226	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504227	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504228	0.95[ASN][1000 genomes]
rs16921952	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16921955	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17215621	0.95[ASN][1000 genomes]
rs17215649	0.95[ASN][1000 genomes]
rs17215676	0.95[ASN][1000 genomes]
rs17215753	0.95[ASN][1000 genomes]
rs17216187	0.95[ASN][1000 genomes]
rs17216236	0.95[ASN][1000 genomes]
rs17216711	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17804335	0.95[ASN][1000 genomes]
rs17804365	0.95[ASN][1000 genomes]
rs17804383	0.95[ASN][1000 genomes]
rs17804840	0.95[ASN][1000 genomes]
rs17804888	0.95[ASN][1000 genomes]
rs17805008	0.95[ASN][1000 genomes]
rs17805026	0.95[ASN][1000 genomes]
rs17805074	0.95[ASN][1000 genomes]
rs17805110	0.95[ASN][1000 genomes]
rs17805146	0.95[ASN][1000 genomes]
rs17805380	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17805439	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17816781	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447218	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814486	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55764517	0.95[ASN][1000 genomes]
rs55787104	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55812114	0.95[ASN][1000 genomes]
rs55825382	0.94[ASN][1000 genomes]
rs55855654	0.95[ASN][1000 genomes]
rs56048296	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56082079	0.95[ASN][1000 genomes]
rs56155911	0.95[ASN][1000 genomes]
rs56180705	0.92[ASN][1000 genomes]
rs56255635	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372514	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56740825	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57131327	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57261109	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57669205	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57942497	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58053450	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58251024	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58559296	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58947041	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034808	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59071610	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59549824	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59797486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59873610	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60454728	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60466370	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60651159	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61212428	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61638902	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61733801	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998258	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998259	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66480865	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66509078	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66676208	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66796009	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66886949	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67039591	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67042991	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67105789	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67243305	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67389108	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67630725	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67677367	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67886764	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67895971	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68076606	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985942	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987118	0.81[ASN][1000 genomes]
rs6989060	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003285	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006539	0.81[ASN][1000 genomes]
rs7007128	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015674	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650852	0.95[ASN][1000 genomes]
rs72650853	0.95[ASN][1000 genomes]
rs72650855	0.95[ASN][1000 genomes]
rs72650856	0.92[ASN][1000 genomes]
rs72650858	0.95[ASN][1000 genomes]
rs72650861	0.95[ASN][1000 genomes]
rs72650869	0.94[ASN][1000 genomes]
rs72650876	0.95[ASN][1000 genomes]
rs72650877	0.95[ASN][1000 genomes]
rs72650879	0.95[ASN][1000 genomes]
rs72650880	0.95[ASN][1000 genomes]
rs72650885	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650900	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652908	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73607868	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73607869	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73607871	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73607874	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73607875	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73609760	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73609762	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73609764	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846666	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
11	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
12	nsv981876	chr8:58153412-58174408	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv8352	chr8:58169848-58174188	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3415602	chr8:58172482-58172951	ZNF genes & repeats	TF binding region CpG island	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	chr8:58170400-58173000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:58171800-58173000	ZNF genes & repeats	Spleen	Spleen
3	chr8:58172200-58173600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:58172400-58173800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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