Variant report

Variant	rs9573562
Chromosome Location	chr13:76055069-76055070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62608582..62609197-chr13:76054850..76055765,2	NB4	blood:
2	chr1:27191364..27192041-chr13:76054801..76055652,2	Hela-S3	cervix:
3	chr13:76053737..76055443-chr13:76121141..76123888,2	K562	blood:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction
ENSG00000118939	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1570539	0.83[ASN][1000 genomes]
rs1570540	0.81[ASN][1000 genomes]
rs1570541	0.83[ASN][1000 genomes]
rs2328945	0.83[ASN][1000 genomes]
rs2328946	0.83[ASN][1000 genomes]
rs2328947	0.83[ASN][1000 genomes]
rs4142591	0.83[ASN][1000 genomes]
rs60343330	0.85[ASN][1000 genomes]
rs6562896	0.83[ASN][1000 genomes]
rs7318786	0.83[ASN][1000 genomes]
rs9565164	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9565165	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565168	0.83[ASN][1000 genomes]
rs9565170	0.84[ASN][1000 genomes]
rs9573544	0.86[ASN][1000 genomes]
rs9573545	0.86[ASN][1000 genomes]
rs9573546	0.86[ASN][1000 genomes]
rs9573547	0.86[ASN][1000 genomes]
rs9573553	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9573560	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9573563	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573566	0.85[ASN][1000 genomes]
rs9573567	0.85[ASN][1000 genomes]
rs9573571	0.83[ASN][1000 genomes]
rs961631	0.83[ASN][1000 genomes]
rs9634999	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:76052200-76057000	Active TSS	Right Atrium	heart
3	chr13:76052600-76057000	Active TSS	Left Ventricle	heart
4	chr13:76052600-76057000	Active TSS	Right Ventricle	heart
5	chr13:76053000-76057000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:76053200-76057400	Active TSS	Fetal Kidney	kidney
7	chr13:76053400-76057000	Active TSS	Fetal Heart	heart
8	chr13:76053400-76057000	Active TSS	Psoas Muscle	Psoas
9	chr13:76053400-76057000	Active TSS	K562	blood
10	chr13:76053400-76057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr13:76053600-76057200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr13:76053600-76057400	Active TSS	Fetal Muscle Leg	muscle
13	chr13:76053600-76057400	Active TSS	NHDF-Ad	bronchial
14	chr13:76053800-76055800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:76053800-76057000	Active TSS	Ovary	ovary
16	chr13:76053800-76057000	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr13:76053800-76057200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr13:76053800-76057200	Active TSS	HSMMtube	muscle
19	chr13:76053800-76057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:76054000-76055200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:76054000-76055400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:76054000-76057000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr13:76054000-76057000	Active TSS	Fetal Lung	lung
24	chr13:76054000-76057000	Active TSS	Hela-S3	cervix
25	chr13:76054000-76057200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr13:76054000-76057400	Active TSS	HMEC	breast
27	chr13:76054000-76057400	Active TSS	NHLF	lung
28	chr13:76054200-76055200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr13:76054200-76055800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr13:76054200-76055800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:76054200-76057000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:76054200-76057000	Active TSS	Brain Cingulate Gyrus	brain
33	chr13:76054200-76057000	Active TSS	NH-A	brain
34	chr13:76054200-76057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:76054200-76057200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:76054200-76057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:76054400-76055200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:76054400-76055200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:76054400-76055200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr13:76054400-76055200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr13:76054400-76055200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr13:76054400-76055200	Flanking Active TSS	Liver	Liver
43	chr13:76054400-76055200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr13:76054400-76055200	Flanking Active TSS	HUVEC	blood vessel
45	chr13:76054400-76055600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr13:76054400-76055800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr13:76054400-76056200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr13:76054400-76056600	Active TSS	Rectal Smooth Muscle	rectum
49	chr13:76054400-76057000	Active TSS	Brain Substantia Nigra	brain
50	chr13:76054400-76057000	Active TSS	Fetal Muscle Trunk	muscle

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