Variant report

Variant	rs7002655
Chromosome Location	chr8:125589956-125589957
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	FOXA1	chr8:125589944-125590279	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125588750..125590742-chr8:125591326..125594243,2	MCF-7	breast:
2	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10103773	0.93[ASN][1000 genomes]
rs12546139	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546733	0.97[ASN][1000 genomes]
rs17371123	0.82[EUR][1000 genomes]
rs3763540	0.82[EUR][1000 genomes]
rs3763543	0.83[EUR][1000 genomes]
rs3763544	0.83[EUR][1000 genomes]
rs3829035	0.83[EUR][1000 genomes]
rs6470253	0.92[ASN][1000 genomes]
rs6470254	0.90[ASN][1000 genomes]
rs6997175	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997184	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998462	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998600	0.97[ASN][1000 genomes]
rs7003895	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835397	0.83[EUR][1000 genomes]
rs7846270	0.83[EUR][1000 genomes]
rs8180993	0.81[AMR][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	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
2	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
3	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
4	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:84 , 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	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
9	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:125577200-125591400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:125577800-125590000	Weak transcription	Osteobl	bone
15	chr8:125578000-125598600	Weak transcription	Gastric	stomach
16	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:125579000-125591400	Weak transcription	HUVEC	blood vessel
18	chr8:125579200-125590200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:125580600-125590200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:125580600-125590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:125580800-125590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:125582200-125590000	Weak transcription	HepG2	liver
25	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
26	chr8:125585000-125598400	Strong transcription	Liver	Liver
27	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:125586000-125593400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:125586400-125590200	Weak transcription	Lung	lung
30	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
31	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:125586800-125590000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:125586800-125590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
36	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
37	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
38	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
39	chr8:125587000-125590000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:125587000-125590000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:125587000-125591000	Weak transcription	Fetal Thymus	thymus
42	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
43	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
44	chr8:125587200-125590200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:125587200-125595600	Weak transcription	Brain Substantia Nigra	brain
46	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
47	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
48	chr8:125587400-125591400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:125587400-125591400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:125587600-125590000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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