Variant report

Variant	rs73700660
Chromosome Location	chr8:110596945-110596946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:110596350-110597004	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:110596356-110596975	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:110551964..110555070-chr8:110593692..110597426,3	K562	blood:
2	chr8:110572165..110574354-chr8:110595418..110597948,2	MCF-7	breast:
3	chr8:110595213..110597176-chr8:110600323..110601967,2	MCF-7	breast:
4	chr8:110595759..110598292-chr8:110656229..110657746,2	MCF-7	breast:
5	chr8:110588060..110591053-chr8:110594927..110598515,3	MCF-7	breast:

No data

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58598824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700659	0.98[AFR][1000 genomes]
rs73702894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110583800-110601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:110586000-110598800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110588000-110600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:110588200-110598200	Weak transcription	Ovary	ovary
7	chr8:110588200-110601600	Weak transcription	Left Ventricle	heart
8	chr8:110589200-110598600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:110589800-110598000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:110589800-110598200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:110589800-110601600	Weak transcription	Right Atrium	heart
12	chr8:110590000-110597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:110590000-110605600	Weak transcription	K562	blood
14	chr8:110590200-110654800	Weak transcription	Lung	lung
15	chr8:110590800-110597800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:110591200-110601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:110591600-110597000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:110591600-110597600	Weak transcription	Colonic Mucosa	Colon
19	chr8:110591600-110598400	Weak transcription	Right Ventricle	heart
20	chr8:110591600-110599400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:110591600-110601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:110591800-110598200	Weak transcription	Fetal Stomach	stomach
24	chr8:110592000-110601400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:110592200-110597400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:110592200-110601600	Weak transcription	NHEK	skin
27	chr8:110592200-110604600	Weak transcription	Gastric	stomach
28	chr8:110592400-110597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:110592400-110601800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:110592800-110597000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:110593200-110598600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:110593400-110597600	Weak transcription	Esophagus	oesophagus
33	chr8:110593600-110597000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:110593600-110597000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:110593600-110601400	Weak transcription	HMEC	breast
36	chr8:110594200-110598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:110594600-110598800	Enhancers	Pancreas	Pancrea
38	chr8:110594800-110598400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:110594800-110606000	Weak transcription	Fetal Brain Male	brain
40	chr8:110595400-110597000	Weak transcription	Brain Anterior Caudate	brain
41	chr8:110595400-110597000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:110595400-110597400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:110595600-110597000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:110595600-110597600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:110595600-110598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:110595600-110601600	Weak transcription	Psoas Muscle	Psoas
47	chr8:110595800-110597200	Enhancers	Liver	Liver
48	chr8:110595800-110597800	Genic enhancers	Fetal Intestine Small	intestine
49	chr8:110596000-110597200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:110596000-110597600	Enhancers	HepG2	liver

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