Variant report

Variant	rs9573539
Chromosome Location	chr13:75989878-75989879
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75988028..75990689-chr13:75994977..75997792,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1028793	1.00[ASN][1000 genomes]
rs1105687	1.00[ASN][1000 genomes]
rs1408928	1.00[ASN][1000 genomes]
rs17064386	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025620	0.82[ASN][1000 genomes]
rs4280128	1.00[ASN][1000 genomes]
rs4530013	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883997	0.82[ASN][1000 genomes]
rs7321494	1.00[ASN][1000 genomes]
rs7990050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318344	1.00[ASN][1000 genomes]
rs9530433	0.94[ASN][1000 genomes]
rs9530434	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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75977400-75990600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:75981000-75990600	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:75984600-75990600	Weak transcription	Lung	lung
5	chr13:75984600-75990600	Weak transcription	Right Atrium	heart
6	chr13:75985200-75991800	Enhancers	HepG2	liver
7	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:75986600-75990600	Weak transcription	Right Ventricle	heart
9	chr13:75987000-75990600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr13:75987200-75990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:75987200-75990600	Weak transcription	Left Ventricle	heart
12	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
13	chr13:75988000-75990800	Enhancers	Hela-S3	cervix
14	chr13:75988200-75990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:75988200-75991200	Enhancers	Fetal Kidney	kidney
16	chr13:75988400-75990600	Weak transcription	Spleen	Spleen
17	chr13:75988400-75991400	Weak transcription	Placenta	Placenta
18	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:75988600-75990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:75988600-75990600	Weak transcription	Pancreas	Pancrea
21	chr13:75988600-75990800	Enhancers	NHDF-Ad	bronchial
22	chr13:75988600-75991400	Enhancers	HSMMtube	muscle
23	chr13:75988600-75991800	Enhancers	NHLF	lung
24	chr13:75988600-75992400	Enhancers	Osteobl	bone
25	chr13:75988600-75999800	Weak transcription	K562	blood
26	chr13:75988800-75990600	Enhancers	GM12878-XiMat	blood
27	chr13:75988800-75990800	Weak transcription	Gastric	stomach
28	chr13:75988800-75992200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:75989400-75990600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:75989400-75990600	Weak transcription	Psoas Muscle	Psoas
32	chr13:75989400-75990600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:75989400-75991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:75989400-75991400	Enhancers	Fetal Lung	lung
35	chr13:75989400-75991600	Enhancers	HSMM	muscle
36	chr13:75989400-75991800	Enhancers	A549	lung
37	chr13:75989400-75991800	Enhancers	NH-A	brain
38	chr13:75989400-75994400	Enhancers	Adipose Nuclei	Adipose
39	chr13:75989600-75990000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr13:75989600-75990400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:75989600-75990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:75989600-75990600	Weak transcription	Ovary	ovary
43	chr13:75989600-75992000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:75989600-75993600	Enhancers	HMEC	breast
45	chr13:75989800-75990000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr13:75989800-75990200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr13:75989800-75991400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:75989800-75991600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr13:75989800-75991800	Enhancers	Liver	Liver
50	chr13:75989800-75992600	Enhancers	NHEK	skin

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