Variant report

Variant	rs9603554
Chromosome Location	chr13:40076654-40076655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1475175	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475176	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17807293	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927196	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858866	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943668	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943669	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943671	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55838454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563713	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563714	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139794	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7317187	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321906	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322026	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324077	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335002	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7335427	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7335605	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7981363	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982627	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002574	1.00[ASN][1000 genomes]
rs8002691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912043	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs912044	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315691	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9315692	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548785	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576824	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9594334	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594335	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594336	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603550	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603551	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603552	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40061600-40081000	Weak transcription	Osteobl	bone
2	chr13:40064800-40081200	Weak transcription	HSMMtube	muscle
3	chr13:40067800-40078400	Enhancers	Fetal Heart	heart
4	chr13:40068400-40080800	Weak transcription	Fetal Brain Female	brain
5	chr13:40069200-40080400	Weak transcription	Aorta	Aorta
6	chr13:40071400-40077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:40073000-40077400	Enhancers	Right Atrium	heart
8	chr13:40073000-40077600	Enhancers	Left Ventricle	heart
9	chr13:40073000-40081200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:40073800-40081200	Weak transcription	Esophagus	oesophagus
11	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:40074000-40077200	Weak transcription	Spleen	Spleen
13	chr13:40074200-40081000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
15	chr13:40074600-40080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:40075000-40077200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:40075000-40077800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:40075200-40077400	Enhancers	Ovary	ovary
19	chr13:40075200-40077600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:40075400-40077400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:40075800-40077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:40075800-40077400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:40075800-40077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr13:40076000-40077400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:40076200-40077200	Weak transcription	Right Ventricle	heart
26	chr13:40076200-40081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:40076400-40076800	Weak transcription	Placenta	Placenta
28	chr13:40076400-40079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:40076400-40079800	Weak transcription	Psoas Muscle	Psoas
30	chr13:40076400-40080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:40076400-40080400	Weak transcription	Fetal Brain Male	brain
32	chr13:40076400-40080800	Weak transcription	Fetal Lung	lung
33	chr13:40076400-40081000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:40076400-40081000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:40076400-40081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:40076400-40081200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:40076400-40081200	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:40076400-40081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:40076400-40081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:40076400-40084000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr13:40076400-40084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr13:40076400-40096000	Weak transcription	Lung	lung
44	chr13:40076600-40079800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr13:40076600-40081200	Weak transcription	Fetal Muscle Leg	muscle

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