Variant report

Variant	rs9573547
Chromosome Location	chr13:76034106-76034107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4394965	0.89[EUR][1000 genomes]
rs4883999	0.83[ASN][1000 genomes]
rs7335576	0.82[ASN][1000 genomes]
rs9565164	1.00[ASN][1000 genomes]
rs9565165	0.89[ASN][1000 genomes]
rs9565168	0.80[ASN][1000 genomes]
rs9573544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573545	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573553	1.00[ASN][1000 genomes]
rs9573554	0.85[ASN][1000 genomes]
rs9573555	0.85[ASN][1000 genomes]
rs9573560	0.84[ASN][1000 genomes]
rs9573562	0.86[ASN][1000 genomes]
rs9573563	0.84[ASN][1000 genomes]
rs9634999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76012800-76036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
3	chr13:76020400-76054400	Weak transcription	A549	lung
4	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
5	chr13:76027000-76034800	Weak transcription	HSMMtube	muscle
6	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:76027200-76035000	Weak transcription	Osteobl	bone
8	chr13:76027200-76035200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:76027200-76038600	Weak transcription	HSMM	muscle
10	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
11	chr13:76030400-76034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:76031000-76034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
14	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:76032600-76037800	Weak transcription	Gastric	stomach
16	chr13:76032600-76038800	Weak transcription	Right Ventricle	heart
17	chr13:76033000-76034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:76033400-76034400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:76033400-76034600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:76033400-76034600	Weak transcription	Left Ventricle	heart
21	chr13:76033400-76034600	Weak transcription	Pancreas	Pancrea
22	chr13:76033400-76034600	Weak transcription	Psoas Muscle	Psoas
23	chr13:76033400-76034600	Weak transcription	Right Atrium	heart
24	chr13:76033400-76035000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:76033400-76036800	Weak transcription	Spleen	Spleen
26	chr13:76033400-76037000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:76033400-76038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:76033400-76039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:76033600-76034200	Enhancers	Liver	Liver
31	chr13:76033600-76034200	Weak transcription	Fetal Brain Male	brain
32	chr13:76033600-76034400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:76033600-76034600	Weak transcription	Ovary	ovary
34	chr13:76033600-76034600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:76033600-76034600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr13:76033600-76034600	Enhancers	GM12878-XiMat	blood
37	chr13:76033600-76035000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr13:76033600-76036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr13:76033600-76036200	Enhancers	NHEK	skin
40	chr13:76033600-76036800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr13:76033600-76037000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:76033600-76038400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:76033600-76038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
45	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:76033800-76034200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:76033800-76034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:76033800-76034200	Weak transcription	Fetal Heart	heart
50	chr13:76033800-76034200	Weak transcription	HMEC	breast

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