Variant report

Variant	rs8180920
Chromosome Location	chr8:125587871-125587872
allele	C/G
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:5)
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	USF1	chr8:125587451-125587888	K562	blood:	n/a	n/a
2	BHLHE40	chr8:125587476-125587944	K562	blood:	n/a	n/a
3	TAL1	chr8:125587559-125587896	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125581156..125582907-chr8:125586122..125588546,3	MCF-7	breast:
2	chr8:125581856..125584794-chr8:125585342..125589064,3	K562	blood:
3	chr8:125577055..125579407-chr8:125587820..125589595,2	MCF-7	breast:
4	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
5	chr8:125575091..125576998-chr8:125587702..125589399,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272486	TF binding region
ENSG00000170873	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10099060	0.83[EUR][1000 genomes]
rs11779706	0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs1988734	0.85[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3763539	0.80[EUR][1000 genomes]
rs3857943	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs3857944	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6470251	0.85[EUR][1000 genomes]
rs6470252	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6997184	0.84[YRI][hapmap]
rs7821505	0.81[EUR][1000 genomes]
rs7824951	0.85[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7828897	0.85[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7838223	0.81[EUR][1000 genomes]
rs8180922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125566400-125600600	Weak transcription	NHEK	skin
4	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
5	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125574800-125590200	Weak transcription	HMEC	breast
8	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
9	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
10	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:125577200-125591400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:125577400-125589800	Weak transcription	NHLF	lung
16	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:125577800-125589600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:125577800-125590000	Weak transcription	Osteobl	bone
19	chr8:125578000-125598600	Weak transcription	Gastric	stomach
20	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:125579000-125591400	Weak transcription	HUVEC	blood vessel
22	chr8:125579200-125590200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:125579400-125589800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
25	chr8:125580400-125588400	Weak transcription	HSMMtube	muscle
26	chr8:125580600-125588600	Weak transcription	Spleen	Spleen
27	chr8:125580600-125590200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:125580600-125590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:125580800-125588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125580800-125590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:125581200-125589200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:125581800-125589000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:125582200-125590000	Weak transcription	HepG2	liver
35	chr8:125584000-125589200	Weak transcription	Fetal Stomach	stomach
36	chr8:125584000-125589600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
38	chr8:125585000-125598400	Strong transcription	Liver	Liver
39	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:125586000-125588200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:125586000-125589200	Weak transcription	Left Ventricle	heart
42	chr8:125586000-125589800	Weak transcription	Right Ventricle	heart
43	chr8:125586000-125593400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:125586400-125588000	Enhancers	Fetal Heart	heart
45	chr8:125586400-125590200	Weak transcription	Lung	lung
46	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
47	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr8:125586800-125589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:125586800-125590000	Weak transcription	Fetal Muscle Trunk	muscle

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