Variant report

Variant	rs73304479
Chromosome Location	chr8:90913673-90913674
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	POLR2A	chr8:90913673-90916136	Hela-S3	cervix:	n/a	n/a
2	SP1	chr8:90913251-90914932	A549	lung:	n/a	chr8:90914762-90914771 chr8:90914227-90914239 chr8:90914752-90914761 chr8:90914752-90914761 chr8:90914227-90914239 chr8:90914761-90914773 chr8:90914762-90914776 chr8:90914097-90914106 chr8:90914228-90914238 chr8:90914761-90914773 chr8:90914751-90914763 chr8:90914095-90914106 chr8:90914753-90914762
3	SIN3AK20	chr8:90913437-90915573	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:90913651-90915360	MCF10A-Er-Src	breast:	n/a	n/a
5	SRF	chr8:90913669-90915082	HCT-116	colon:	n/a	chr8:90914647-90914657
6	MXI1	chr8:90913464-90915946	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:90912833-90913800	A549	lung:	n/a	n/a
8	TCF12	chr8:90912920-90915063	A549	lung:	n/a	chr8:90914702-90914709
9	GATA3	chr8:90913518-90914959	A549	lung:	n/a	chr8:90914769-90914778
10	CEBPB	chr8:90913531-90914204	IMR90	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
11	CEBPB	chr8:90913594-90914230	HepG2	liver:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
12	CEBPB	chr8:90913362-90914219	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
13	CEBPB	chr8:90913548-90914246	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
14	MAX	chr8:90912888-90915495	MCF-7	breast:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
15	FOSL2	chr8:90913521-90914503	A549	lung:	n/a	n/a
16	POLR2A	chr8:90913421-90915436	K562	blood:	n/a	n/a
17	ELK4	chr8:90913659-90915035	HEK293	kidney:	n/a	chr8:90914195-90914206
18	SIX5	chr8:90913500-90914408	A549	lung:	n/a	n/a
19	JUND	chr8:90913580-90915681	K562	blood:	n/a	chr8:90914754-90914763
20	TAF1	chr8:90913133-90913697	A549	lung:	n/a	n/a
21	CEBPB	chr8:90913422-90914387	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
22	CEBPB	chr8:90913353-90914461	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
23	CEBPB	chr8:90913240-90914948	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
24	HA-E2F1	chr8:90912833-90915523	MCF-7	breast:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
25	CUX1	chr8:90913601-90914259	K562	blood:	n/a	n/a
26	SIN3AK20	chr8:90912996-90915794	MCF-7	breast:	n/a	n/a
27	HDAC2	chr8:90913295-90915500	MCF-7	breast:	n/a	chr8:90913650-90913664
28	CEBPB	chr8:90913549-90914547	H1-hESC	embryonic stem cell:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
29	CEBPB	chr8:90913517-90914251	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
30	BCL3	chr8:90913483-90914732	A549	lung:	n/a	chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914538-90914547
31	CEBPB	chr8:90913532-90914309	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
32	EP300	chr8:90913586-90914994	K562	blood:	n/a	chr8:90914019-90914033 chr8:90914538-90914554 chr8:90913699-90913713 chr8:90914701-90914717 chr8:90914722-90914738
33	GATA3	chr8:90913120-90914927	MCF-7	breast:	n/a	chr8:90914769-90914778
34	POLR2A	chr8:90912966-90914625	A549	lung:	n/a	n/a
35	MAX	chr8:90912861-90915548	A549	lung:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
36	SRF	chr8:90913145-90914915	MCF-7	breast:	n/a	chr8:90914647-90914657
37	ZNF217	chr8:90913342-90914323	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:90913406-90916870	K562	blood:	n/a	n/a
39	CEBPB	chr8:90913581-90914976	Hela-S3	cervix:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
40	NR2F2	chr8:90912896-90915509	MCF-7	breast:	n/a	n/a
41	JUND	chr8:90913410-90915267	MCF-7	breast:	n/a	chr8:90914754-90914763
42	SP1	chr8:90913048-90913723	A549	lung:	n/a	n/a
43	REST	chr8:90913025-90914787	A549	lung:	n/a	chr8:90914544-90914554 chr8:90914753-90914766 chr8:90914548-90914561
44	SRF	chr8:90913264-90915319	MCF-7	breast:	n/a	chr8:90914647-90914657
45	STAT3	chr8:90913639-90914360	MCF10A-Er-Src	breast:	n/a	chr8:90914193-90914202 chr8:90914188-90914208 chr8:90914188-90914208 chr8:90914194-90914203 chr8:90914194-90914202 chr8:90914064-90914076

No.	Distal block	Cell Line	Cell type
1	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
4	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
5	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
6	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
7	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
8	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
9	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
10	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
11	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

Variant related genes	Relation type
OSGIN2	TF binding region
RNU6-925P	TF binding region
ENSG00000104312	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088155	0.81[AFR][1000 genomes]
rs10090863	0.95[EUR][1000 genomes]
rs10096580	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10111854	0.81[AFR][1000 genomes]
rs10504885	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13312969	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13312970	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901369	1.00[EUR][1000 genomes]
rs16901430	0.95[EUR][1000 genomes]
rs16901433	1.00[EUR][1000 genomes]
rs1805825	0.84[EUR][1000 genomes]
rs1805834	0.84[EUR][1000 genomes]
rs1805835	0.84[EUR][1000 genomes]
rs1805861	0.84[EUR][1000 genomes]
rs1805884	0.84[EUR][1000 genomes]
rs2280778	0.84[EUR][1000 genomes]
rs28371401	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28486026	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736640	0.84[EUR][1000 genomes]
rs58321776	1.00[EUR][1000 genomes]
rs58573572	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58922279	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60259111	1.00[EUR][1000 genomes]
rs60938698	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66854331	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6983345	0.85[AFR][1000 genomes]
rs6985934	0.84[EUR][1000 genomes]
rs6996173	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002335	0.84[AFR][1000 genomes]
rs7005991	0.84[EUR][1000 genomes]
rs7006318	0.84[EUR][1000 genomes]
rs73304457	1.00[EUR][1000 genomes]
rs73304468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304476	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297757	0.95[EUR][1000 genomes]
rs9656966	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989385	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3371037	chr8:90912579-90917077	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3328681	chr8:90913579-90916277	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3321826	chr8:90913604-90916152	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:90897600-90914000	Weak transcription	Gastric	stomach
3	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
4	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
5	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:90902400-90913800	Weak transcription	NHLF	lung
9	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
10	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
11	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
12	chr8:90905000-90914000	Weak transcription	Lung	lung
13	chr8:90905800-90913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:90905800-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:90906000-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:90906000-90913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
20	chr8:90906400-90913800	Weak transcription	Fetal Stomach	stomach
21	chr8:90909200-90913800	Weak transcription	NH-A	brain
22	chr8:90910000-90913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:90910000-90913800	Weak transcription	Osteobl	bone
24	chr8:90910200-90913800	Weak transcription	NHDF-Ad	bronchial
25	chr8:90911600-90913800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:90912400-90913800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:90912800-90916200	Active TSS	A549	lung
28	chr8:90913200-90913800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:90913200-90913800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:90913200-90913800	Enhancers	Pancreas	Pancrea
31	chr8:90913200-90914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:90913200-90916000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:90913200-90917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:90913400-90913800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:90913400-90913800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:90913400-90913800	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:90913400-90913800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:90913400-90913800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:90913400-90913800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:90913400-90913800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:90913400-90913800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:90913400-90913800	Enhancers	Aorta	Aorta
43	chr8:90913400-90913800	Enhancers	Fetal Brain Male	brain
44	chr8:90913400-90913800	Enhancers	Fetal Intestine Small	intestine
45	chr8:90913400-90913800	Enhancers	Fetal Muscle Trunk	muscle
46	chr8:90913400-90913800	Enhancers	Fetal Thymus	thymus
47	chr8:90913400-90913800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:90913400-90913800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:90913400-90913800	Flanking Active TSS	Hela-S3	cervix
50	chr8:90913400-90914000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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