Variant report

Variant	rs72820820
Chromosome Location	chr5:148113999-148114000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:148112640..148114166-chr5:148783365..148784967,2	K562	blood:
2	chr5:148112134..148114277-chr5:148116593..148119469,2	K562	blood:

Variant related genes	Relation type
ENSG00000127743	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10071589	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953886	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788315	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55792946	1.00[EUR][1000 genomes]
rs55939907	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56296220	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60321215	1.00[ASN][1000 genomes]
rs6893833	1.00[ASN][1000 genomes]
rs72820809	1.00[EUR][1000 genomes]
rs72820816	1.00[EUR][1000 genomes]
rs72820822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72837412	0.90[EUR][1000 genomes]
rs72837414	1.00[EUR][1000 genomes]
rs72837416	1.00[EUR][1000 genomes]
rs72837435	1.00[EUR][1000 genomes]
rs7715328	0.98[AFR][1000 genomes];1.00[AMR][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	nsv883021	chr5:148060817-148182123	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148108000-148116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:148110400-148116600	Weak transcription	Psoas Muscle	Psoas
3	chr5:148110600-148114000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:148110600-148115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:148110600-148115000	Weak transcription	NHLF	lung
6	chr5:148110600-148115800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:148110600-148116200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:148110600-148116400	Weak transcription	HSMM	muscle
9	chr5:148110800-148114600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:148111000-148115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:148111000-148116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:148111000-148116000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:148111200-148115000	Weak transcription	Hela-S3	cervix
14	chr5:148111200-148115400	Weak transcription	Aorta	Aorta
15	chr5:148111400-148115200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:148111400-148115200	Weak transcription	Right Atrium	heart
17	chr5:148111400-148116000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:148111400-148120400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:148111800-148116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:148112200-148116400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:148112600-148115600	Enhancers	HUVEC	blood vessel
22	chr5:148113000-148114000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:148113000-148118800	Enhancers	Liver	Liver
24	chr5:148113200-148114000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:148113200-148119000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:148113400-148114200	Enhancers	Fetal Heart	heart
27	chr5:148113400-148115400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:148113600-148114200	Weak transcription	Lung	lung
29	chr5:148113600-148115000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:148113600-148115400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:148113600-148118600	Weak transcription	Brain Angular Gyrus	brain
32	chr5:148113600-148119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:148113600-148119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:148113600-148119000	Weak transcription	Fetal Lung	lung
35	chr5:148113600-148119000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:148113600-148120400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:148113800-148114200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:148113800-148116000	Weak transcription	Left Ventricle	heart
39	chr5:148113800-148116000	Weak transcription	Osteobl	bone
40	chr5:148113800-148119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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