Variant report

Variant	rs72765566
Chromosome Location	chr5:79953948-79953949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
2	chr5:79948428..79952825-chr5:79952965..79955776,5	MCF-7	breast:
3	chr5:79949138..79951235-chr5:79952143..79954933,3	K562	blood:
4	chr5:79949138..79951235-chr5:79952143..79954241,3	K562	blood:

Variant related genes	Relation type
ENSG00000113318	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000152380	Chromatin interaction
ENSG00000249042	Chromatin interaction

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

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

rs_ID	r²[population]
rs16877918	1.00[ASN][1000 genomes]
rs17263489	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35709834	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55742039	1.00[ASN][1000 genomes]
rs55896641	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212706	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151630	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151912	1.00[ASN][1000 genomes]
rs72765545	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72765546	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765547	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765548	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765549	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765552	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765555	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765560	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72765561	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72765582	1.00[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1792078	chr5:79953567-79962367	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1831340	chr5:79953567-79962367	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1851181	chr5:79953567-79962367	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951200-79954800	Weak transcription	Ovary	ovary
2	chr5:79951200-79963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:79951400-79956000	Weak transcription	Aorta	Aorta
4	chr5:79951400-79963200	Weak transcription	Right Ventricle	heart
5	chr5:79951600-79954200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:79951600-79954200	Weak transcription	Colonic Mucosa	Colon
7	chr5:79951600-79954400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:79951600-79954400	Weak transcription	Gastric	stomach
9	chr5:79951600-79955000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:79951600-79955000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:79951600-79955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:79951600-79959000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:79951600-79962600	Weak transcription	Esophagus	oesophagus
14	chr5:79951600-79963200	Weak transcription	Pancreas	Pancrea
15	chr5:79951600-79963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:79951600-79963400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:79951600-79963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
19	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
21	chr5:79951800-79954000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:79951800-79954200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:79951800-79954400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:79951800-79954400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:79951800-79954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:79951800-79955200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:79951800-79957600	Weak transcription	Fetal Brain Male	brain
28	chr5:79951800-79960200	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:79951800-79964000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:79952000-79954000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:79952000-79954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:79952000-79955600	Weak transcription	Fetal Lung	lung
34	chr5:79952000-79959800	Weak transcription	HMEC	breast
35	chr5:79952000-79963800	Weak transcription	Fetal Heart	heart
36	chr5:79952200-79954000	Weak transcription	Spleen	Spleen
37	chr5:79952200-79954800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:79952200-79955800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr5:79952200-79956400	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:79952200-79956400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:79952200-79964200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:79952200-79964200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr5:79952200-79964200	Weak transcription	NHLF	lung
44	chr5:79952200-79975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:79952400-79954400	Strong transcription	Adipose Nuclei	Adipose
46	chr5:79952400-79954400	Strong transcription	NHEK	skin
47	chr5:79952400-79955200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:79952400-79955400	Weak transcription	NHDF-Ad	bronchial
49	chr5:79952400-79956200	Strong transcription	Placenta	Placenta
50	chr5:79952400-79956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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