Variant report

Variant	rs9573554
Chromosome Location	chr13:76039503-76039504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11620109	0.87[ASN][1000 genomes]
rs17257170	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2031507	0.87[ASN][1000 genomes]
rs2031508	0.87[ASN][1000 genomes]
rs35267702	0.90[ASN][1000 genomes]
rs4883999	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56266917	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7318664	0.90[AFR][1000 genomes]
rs73221958	0.90[AFR][1000 genomes]
rs73221960	0.90[AFR][1000 genomes]
rs73221961	0.90[AFR][1000 genomes]
rs73221962	0.87[AFR][1000 genomes]
rs7331661	0.87[ASN][1000 genomes]
rs7335576	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530440	0.90[ASN][1000 genomes]
rs9565164	0.85[ASN][1000 genomes]
rs9573544	0.85[ASN][1000 genomes]
rs9573545	0.85[ASN][1000 genomes]
rs9573546	0.85[ASN][1000 genomes]
rs9573547	0.85[ASN][1000 genomes]
rs9573548	0.90[ASN][1000 genomes]
rs9573553	0.85[ASN][1000 genomes]
rs9573555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634999	0.85[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76020400-76054400	Weak transcription	A549	lung
2	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
4	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
7	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:76033800-76040800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:76034200-76040200	Enhancers	Fetal Heart	heart
11	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:76035400-76040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:76035600-76041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:76036000-76039600	Weak transcription	Ovary	ovary
15	chr13:76036000-76041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:76036000-76041600	Weak transcription	Osteobl	bone
17	chr13:76036000-76042400	Weak transcription	HSMMtube	muscle
18	chr13:76037400-76042200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:76037400-76043200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:76037600-76041800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:76037800-76042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:76038000-76042200	Weak transcription	Hela-S3	cervix
23	chr13:76038000-76043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:76038200-76040400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:76038400-76039600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:76038400-76039600	Enhancers	Pancreas	Pancrea
27	chr13:76038400-76039800	Enhancers	NHEK	skin
28	chr13:76038600-76039800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr13:76038600-76040200	Enhancers	Psoas Muscle	Psoas
30	chr13:76038800-76039600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr13:76038800-76039600	ZNF genes & repeats	HMEC	breast
32	chr13:76038800-76039800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:76038800-76039800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:76038800-76039800	Enhancers	Right Atrium	heart
35	chr13:76038800-76040000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:76038800-76040200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:76038800-76040200	Enhancers	Left Ventricle	heart
38	chr13:76038800-76040400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr13:76038800-76040600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr13:76038800-76041800	Weak transcription	Fetal Brain Male	brain
41	chr13:76039000-76039800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr13:76039000-76040400	Genic enhancers	HepG2	liver
43	chr13:76039200-76039800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:76039200-76040000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:76039200-76040000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:76039400-76042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:76039400-76052000	Weak transcription	Right Ventricle	heart

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