Variant report

Variant	rs73780245
Chromosome Location	chr5:95004203-95004204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94981743..94984160-chr5:95003178..95007454,4	MCF-7	breast:
2	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
3	chr5:95002978..95007140-chr5:95040184..95043277,3	MCF-7	breast:
4	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
5	chr5:95002921..95004601-chr5:95084426..95086645,2	K562	blood:
6	chr5:95004095..95005958-chr5:95033520..95035303,2	K562	blood:
7	chr5:95000816..95004243-chr5:95066766..95069424,4	MCF-7	breast:
8	chr5:94998665..95005080-chr5:95065235..95073616,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000145757	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11951489	1.00[EUR][1000 genomes]
rs17084945	1.00[EUR][1000 genomes]
rs17084958	1.00[EUR][1000 genomes]
rs17084960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60566082	1.00[EUR][1000 genomes]
rs60694924	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780147	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780151	0.84[AFR][1000 genomes];1.00[EUR][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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
5	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
8	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95000400-95004600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:95000400-95004800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:95000400-95005000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:95000400-95005200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:95000600-95004400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:95000600-95004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:95000600-95004400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:95000600-95004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:95000600-95004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:95000600-95004800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:95000600-95004800	Weak transcription	Liver	Liver
20	chr5:95000600-95004800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:95000600-95004800	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:95000600-95005000	Weak transcription	Ovary	ovary
23	chr5:95000600-95005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:95000600-95005200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:95000600-95005200	Weak transcription	Fetal Heart	heart
26	chr5:95000800-95005000	Weak transcription	Brain Substantia Nigra	brain
27	chr5:95001000-95004400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:95003000-95005800	Enhancers	K562	blood
29	chr5:95003000-95007600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:95003400-95004600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:95003400-95006600	Enhancers	NHLF	lung
32	chr5:95003400-95007800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:95003600-95006000	Enhancers	HUVEC	blood vessel
34	chr5:95003800-95004600	Weak transcription	Fetal Stomach	stomach
35	chr5:95004000-95004400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:95004000-95005000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:95004000-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:95004000-95006800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95004000-95007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:95004200-95004800	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:95004200-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:95004200-95006000	Enhancers	NHDF-Ad	bronchial
43	chr5:95004200-95006200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:95004200-95006600	Enhancers	HSMM	muscle
45	chr5:95004200-95006600	Enhancers	NH-A	brain
46	chr5:95004200-95007000	Enhancers	Osteobl	bone

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