Variant report

Variant	rs73304476
Chromosome Location	chr8:90912728-90912729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90912135-90912951	K562	blood:	n/a	n/a
2	POLR2A	chr8:90912611-90912836	MCF10A-Er-Src	breast:	n/a	n/a
3	CUX1	chr8:90912670-90912802	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90905258..90907260-chr8:90910485..90913048,2	MCF-7	breast:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
4	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
5	chr8:90898491..90899307-chr8:90912154..90912766,2	MCF-7	breast:
6	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
7	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:

No data

Variant related genes	Relation type
OSGIN2	TF binding region
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090863	0.95[EUR][1000 genomes]
rs10096580	1.00[EUR][1000 genomes]
rs10504885	1.00[EUR][1000 genomes]
rs13312969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312970	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901369	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901430	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901433	1.00[EUR][1000 genomes];0.81[ASN][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	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28486026	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3736640	0.84[EUR][1000 genomes]
rs58321776	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58573572	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60259111	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60938698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66854331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985934	0.84[EUR][1000 genomes]
rs6996173	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7005991	0.84[EUR][1000 genomes]
rs7006318	0.84[EUR][1000 genomes]
rs73304457	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304468	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304479	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304487	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297757	0.95[EUR][1000 genomes]
rs9656966	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs989385	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90894400-90913400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:90895600-90913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:90897600-90914000	Weak transcription	Gastric	stomach
5	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
6	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
7	chr8:90899800-90913600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:90900600-90913400	Weak transcription	Liver	Liver
9	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:90900800-90913600	Weak transcription	Fetal Lung	lung
11	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:90902400-90913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:90902400-90913800	Weak transcription	NHLF	lung
15	chr8:90902600-90913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:90902600-90913400	Weak transcription	NHEK	skin
17	chr8:90902600-90913600	Weak transcription	HepG2	liver
18	chr8:90904000-90913400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:90904200-90913400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:90904600-90913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
22	chr8:90905000-90913400	Weak transcription	Aorta	Aorta
23	chr8:90905000-90913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
25	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
26	chr8:90905000-90914000	Weak transcription	Lung	lung
27	chr8:90905400-90913400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:90905600-90913600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:90905600-90913600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:90905800-90913400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:90905800-90913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:90905800-90913600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:90905800-90913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:90905800-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:90906000-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:90906000-90913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:90906200-90913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:90906200-90913200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:90906200-90913200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:90906200-90913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:90906200-90913200	Weak transcription	Pancreas	Pancrea
42	chr8:90906200-90913400	Weak transcription	Fetal Intestine Small	intestine
43	chr8:90906200-90913400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:90906200-90913600	Weak transcription	Primary T cells from cord blood	blood
45	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
48	chr8:90906400-90913400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:90906400-90913600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:90906400-90913800	Weak transcription	Fetal Stomach	stomach

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