Variant report

Variant	rs58799139
Chromosome Location	chr5:95004839-95004840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:94998594..95001080-chr5:95004813..95006374,2	MCF-7	breast:
5	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
6	chr5:95004095..95005958-chr5:95033520..95035303,2	K562	blood:
7	chr5:94998665..95005080-chr5:95065235..95073616,11	MCF-7	breast:

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11949257	1.00[AMR][1000 genomes]
rs11951747	1.00[AMR][1000 genomes]
rs11952880	1.00[AMR][1000 genomes]
rs11955539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11958444	1.00[AMR][1000 genomes]
rs11959023	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11959236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57268622	1.00[AMR][1000 genomes]
rs58937956	1.00[AMR][1000 genomes]
rs59564094	1.00[AMR][1000 genomes]
rs61400254	1.00[AMR][1000 genomes]
rs61733083	1.00[AMR][1000 genomes]
rs6870343	1.00[AMR][1000 genomes]
rs73147985	1.00[AMR][1000 genomes]
rs73147991	1.00[AMR][1000 genomes]
rs73149618	1.00[AMR][1000 genomes]
rs73149620	1.00[AMR][1000 genomes]
rs73149622	1.00[AMR][1000 genomes]
rs73149644	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149647	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149655	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149668	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149677	1.00[AMR][1000 genomes]
rs73149691	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	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:53 , 50 per page) page: 1 2

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	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
6	chr5:95000400-95005000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:95000400-95005200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:95000600-95005000	Weak transcription	Ovary	ovary
9	chr5:95000600-95005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:95000600-95005200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:95000600-95005200	Weak transcription	Fetal Heart	heart
12	chr5:95000800-95005000	Weak transcription	Brain Substantia Nigra	brain
13	chr5:95003000-95005800	Enhancers	K562	blood
14	chr5:95003000-95007600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:95003400-95006600	Enhancers	NHLF	lung
16	chr5:95003400-95007800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:95003600-95006000	Enhancers	HUVEC	blood vessel
18	chr5:95004000-95005000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:95004000-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:95004000-95006800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:95004000-95007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:95004200-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:95004200-95006000	Enhancers	NHDF-Ad	bronchial
24	chr5:95004200-95006200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:95004200-95006600	Enhancers	HSMM	muscle
26	chr5:95004200-95006600	Enhancers	NH-A	brain
27	chr5:95004200-95007000	Enhancers	Osteobl	bone
28	chr5:95004400-95005200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:95004400-95006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:95004400-95006600	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:95004400-95006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:95004400-95007000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:95004400-95008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:95004600-95006000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:95004600-95006000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:95004600-95006200	Enhancers	Fetal Stomach	stomach
37	chr5:95004600-95006600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:95004600-95006600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:95004600-95006600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:95004600-95007000	Enhancers	Colon Smooth Muscle	Colon
41	chr5:95004800-95005000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr5:95004800-95005400	Enhancers	Brain Anterior Caudate	brain
43	chr5:95004800-95005600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:95004800-95005600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:95004800-95005800	Enhancers	Brain Cingulate Gyrus	brain
46	chr5:95004800-95006000	Enhancers	Brain Hippocampus Middle	brain
47	chr5:95004800-95006000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:95004800-95006200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:95004800-95006600	Enhancers	Fetal Muscle Leg	muscle
50	chr5:95004800-95006600	Enhancers	Psoas Muscle	Psoas

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