Variant report

Variant	rs72683057
Chromosome Location	chr8:103547901-103547902
allele	A/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	NFATC1	chr8:103547887-103548699	GM12878	blood:	n/a	n/a
2	ZNF384	chr8:103546764-103548628	GM12878	blood:	n/a	n/a
3	ZNF143	chr8:103547897-103548322	GM12878	blood:	n/a	n/a
4	ZEB1	chr8:103547886-103548703	GM12878	blood:	n/a	n/a
5	TEAD4	chr8:103547860-103548767	H1-hESC	embryonic stem cell:	n/a	n/a
6	POU2F2	chr8:103547899-103548837	GM12891	blood:	n/a	n/a
7	FOS	chr8:103547892-103548497	MCF10A-Er-Src	breast:	n/a	chr8:103548047-103548058
8	SP1	chr8:103547886-103548392	A549	lung:	n/a	chr8:103548306-103548316
9	BCLAF1	chr8:103547756-103548686	GM12878	blood:	n/a	n/a
10	ATF2	chr8:103547563-103548901	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:103547679-103548725	GM18951	blood:	n/a	n/a
12	PAX5	chr8:103547887-103548711	GM12878	blood:	n/a	n/a
13	FOXM1	chr8:103547803-103548795	GM12878	blood:	n/a	n/a
14	HDAC2	chr8:103547867-103548795	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr8:103547869-103548776	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr8:103547885-103548685	GM12878	blood:	n/a	n/a
17	SP1	chr8:103547820-103548840	H1-hESC	embryonic stem cell:	n/a	chr8:103548306-103548316
18	FOXM1	chr8:103547549-103548844	GM12878	blood:	n/a	n/a
19	SP1	chr8:103547828-103548735	H1-hESC	embryonic stem cell:	n/a	chr8:103548306-103548316
20	MAX	chr8:103547899-103548831	H1-hESC	embryonic stem cell:	n/a	n/a
21	IKZF1	chr8:103547890-103548737	GM12878	blood:	n/a	n/a
22	RELA	chr8:103547896-103548765	GM12891	blood:	n/a	n/a
23	BCL11A	chr8:103547879-103548475	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:103547586-103548226	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:103547796-103548917	H1-hESC	embryonic stem cell:	n/a	n/a
26	RELA	chr8:103547891-103548769	GM18951	blood:	n/a	n/a
27	POLR2A	chr8:103547527-103548826	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:103547802-103548695	GM12892	blood:	n/a	n/a
29	FOS	chr8:103547885-103548615	MCF10A-Er-Src	breast:	n/a	chr8:103548047-103548058
30	PML	chr8:103547505-103548919	GM12878	blood:	n/a	n/a
31	RELA	chr8:103547583-103548824	GM18505	blood:	n/a	n/a
32	TCF12	chr8:103547697-103550461	A549	lung:	n/a	chr8:103548853-103548860
33	CHD2	chr8:103547875-103548801	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr8:103547892-103548392	MCF10A-Er-Src	breast:	n/a	n/a
35	NFE2	chr8:103547880-103548015	GM12878	blood:	n/a	n/a
36	EP300	chr8:103547859-103548783	H1-hESC	embryonic stem cell:	n/a	chr8:103548470-103548484
37	IRF4	chr8:103547854-103548684	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:103547646-103548860	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:103547852-103548381	GM12892	blood:	n/a	n/a
40	ZNF143	chr8:103547830-103548260	Hela-S3	cervix:	n/a	n/a
41	GTF2F1	chr8:103547791-103548768	H1-hESC	embryonic stem cell:	n/a	n/a
42	RUNX3	chr8:103547873-103548748	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:103547592-103548247	GM12892	blood:	n/a	n/a
44	POLR2A	chr8:103547619-103548695	GM12878	blood:	n/a	n/a
45	SP1	chr8:103547900-103548734	GM12878	blood:	n/a	chr8:103548306-103548316
46	POLR2A	chr8:103547594-103548838	GM12878	blood:	n/a	n/a
47	FOS	chr8:103547879-103548632	MCF10A-Er-Src	breast:	n/a	chr8:103548047-103548058
48	SP1	chr8:103547892-103548760	GM12878	blood:	n/a	chr8:103548306-103548316
49	MTA3	chr8:103547530-103548798	GM12878	blood:	n/a	n/a
50	RCOR1	chr8:103547705-103551463	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103437958..103439977-chr8:103547146..103549346,2	MCF-7	breast:
2	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
3	chr8:103540698..103544207-chr8:103546696..103550142,4	MCF-7	breast:
4	chr8:103539619..103542009-chr8:103547137..103548824,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1224P	TF binding region
ENSG00000104517	Chromatin interaction
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1000671	0.87[EUR][1000 genomes]
rs10505033	0.84[EUR][1000 genomes]
rs16869497	0.86[AFR][1000 genomes]
rs16869517	0.90[AMR][1000 genomes]
rs17185729	0.95[EUR][1000 genomes]
rs17766593	0.97[EUR][1000 genomes]
rs2511758	0.83[EUR][1000 genomes]
rs5001330	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55690838	0.94[EUR][1000 genomes]
rs56394526	0.94[EUR][1000 genomes]
rs72683035	0.95[EUR][1000 genomes]
rs72683040	0.97[EUR][1000 genomes]
rs72683041	0.97[EUR][1000 genomes]
rs72683053	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103541000-103548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103541400-103548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:103541400-103548000	Weak transcription	Aorta	Aorta
5	chr8:103541400-103548200	Weak transcription	Pancreas	Pancrea
6	chr8:103541600-103548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:103541600-103548000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:103541600-103548000	Weak transcription	Placenta	Placenta
9	chr8:103541800-103548000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:103541800-103548000	Weak transcription	Brain Anterior Caudate	brain
11	chr8:103541800-103548000	Weak transcription	HSMMtube	muscle
12	chr8:103541800-103549800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:103543400-103548000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:103543400-103549400	Weak transcription	K562	blood
15	chr8:103543600-103548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
17	chr8:103545800-103548600	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:103546200-103548000	Enhancers	Hela-S3	cervix
19	chr8:103546200-103549000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:103546200-103549200	Enhancers	Osteobl	bone
21	chr8:103546200-103550200	Enhancers	NHDF-Ad	bronchial
22	chr8:103546400-103548600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:103546400-103548600	Enhancers	Primary B cells from cord blood	blood
24	chr8:103546400-103548800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:103546600-103548200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:103546600-103549000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:103546600-103550200	Enhancers	Thymus	Thymus
29	chr8:103546600-103550200	Enhancers	NHLF	lung
30	chr8:103546600-103550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:103546600-103550600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:103546600-103550600	Enhancers	Fetal Thymus	thymus
33	chr8:103546800-103548000	Enhancers	Brain Germinal Matrix	brain
34	chr8:103546800-103550000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
36	chr8:103547000-103548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:103547000-103548000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:103547000-103548000	Weak transcription	Right Atrium	heart
39	chr8:103547000-103549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:103547000-103549600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
42	chr8:103547200-103548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:103547200-103548600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:103547200-103548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:103547400-103548600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:103547400-103548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:103547400-103549000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:103547400-103549600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:103547400-103550200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:103547600-103548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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