Variant report

Variant	rs72682416
Chromosome Location	chr8:120082923-120082924
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	CTCF	chr8:120082815-120082995	A549	lung:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
2	MAZ	chr8:120082657-120082988	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr8:120082779-120082959	MCF-7	breast:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
4	CTCF	chr8:120082840-120082990	HCPEpiC	choroid plexus:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
5	RAD21	chr8:120082654-120083128	IMR90	lung:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
6	CTCF	chr8:120082860-120083010	HMF	breast:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
7	CTCF	chr8:120082820-120082970	GM12866	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
8	CTCF	chr8:120082712-120083116	IMR90	lung:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
9	CTCF	chr8:120082801-120082973	HepG2	liver:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
10	CTCF	chr8:120082880-120083030	GM12864	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
11	RAD21	chr8:120082772-120083044	A549	lung:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
12	CTCF	chr8:120082760-120083037	SK-N-SH_RA	brain:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
13	CTCF	chr8:120082847-120082991	K562	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
14	CTCF	chr8:120082860-120083010	HRE	kidney:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
15	CTCF	chr8:120082805-120083051	Medullo	brain:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
16	CTCF	chr8:120082840-120082990	NHEK	skin:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
17	ZNF143	chr8:120082766-120082965	GM12878	blood:	n/a	n/a
18	CTCF	chr8:120082840-120082990	HRPEpiC	eye:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
19	RAD21	chr8:120082746-120083065	ECC-1	luminal epithelium:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
20	ZNF143	chr8:120082688-120082926	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr8:120082670-120082943	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr8:120082840-120082990	GM12872	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
23	CTCF	chr8:120082840-120082990	HMEC	breast:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
24	CTCF	chr8:120082658-120083106	MCF-7	breast:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
25	CTCF	chr8:120082860-120083010	HBMEC	blood vessel:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
26	CTCF	chr8:120082860-120083010	HCFaa	heart:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
27	CEBPB	chr8:120082746-120082948	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr8:120082920-120083070	GM06990	blood:	n/a	n/a
29	CTCF	chr8:120082797-120083167	HCT-116	colon:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
30	CTCF	chr8:120082860-120083010	GM12878	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
31	CTCF	chr8:120082810-120083018	ECC-1	luminal epithelium:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
32	CTCF	chr8:120082800-120082950	WI-38	lung:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
33	CTCF	chr8:120082351-120083294	SK-N-SH	brain:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
34	CTCF	chr8:120082860-120083010	HUVEC	blood vessel:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
35	CTCF	chr8:120082880-120083030	BJ	skin:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
36	CTCF	chr8:120082840-120082990	HVMF	connective:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
37	CTCF	chr8:120082799-120083080	HepG2	liver:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
38	CTCF	chr8:120082840-120082990	BE2_C	brain:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
39	CTCF	chr8:120082824-120083014	LNCaP	prostate:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
40	RAD21	chr8:120082577-120083169	MCF-7	breast:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
41	RAD21	chr8:120082790-120083149	A549	lung:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
42	CTCF	chr8:120082840-120082990	SAEC	small airway:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
43	CTCF	chr8:120082840-120082990	GM12875	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
44	RAD21	chr8:120082615-120083171	HCT-116	colon:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
45	CTCF	chr8:120082840-120082990	GM06990	blood:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
46	SMC3	chr8:120082316-120083315	Hela-S3	cervix:	n/a	chr8:120082910-120082924
47	CTCF	chr8:120082820-120082970	HVMF	connective:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
48	CTCF	chr8:120082860-120083010	HPAF	blood vessel:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
49	CTCF	chr8:120082880-120083030	HCM	heart:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
50	CTCF	chr8:120082840-120082990	AG09309	skin:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926

No.	Distal block	Cell Line	Cell type
1	chr8:119755541..119756586-chr8:120081962..120083463,9	MCF-7	breast:
2	chr8:119674640..119675239-chr8:120082658..120083255,2	MCF-7	breast:
3	chr8:119674415..119675263-chr8:120082432..120082985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254278	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11573939	1.00[ASN][1000 genomes]
rs11993915	1.00[ASN][1000 genomes]
rs11997898	1.00[ASN][1000 genomes]
rs16891963	1.00[ASN][1000 genomes]
rs1872425	1.00[ASN][1000 genomes]
rs55781186	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6995289	0.90[AFR][1000 genomes]
rs7017788	1.00[ASN][1000 genomes]
rs72682419	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682426	1.00[ASN][1000 genomes]
rs72682427	1.00[ASN][1000 genomes]
rs72682428	1.00[ASN][1000 genomes]
rs72682430	1.00[ASN][1000 genomes]
rs72682431	1.00[ASN][1000 genomes]
rs72682433	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682444	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3386171	chr8:120081021-120083019	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120080600-120083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120080600-120085200	Weak transcription	Fetal Stomach	stomach
3	chr8:120080800-120084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:120082200-120084400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120082400-120083200	Enhancers	NHLF	lung
6	chr8:120082600-120083000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:120082600-120083000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:120082600-120083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:120082600-120083600	Weak transcription	NHDF-Ad	bronchial

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