Variant report

Variant	rs533476
Chromosome Location	chr13:51172611-51172612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1239673	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1239674	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1239675	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1239676	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1614727	0.82[EUR][1000 genomes]
rs3118902	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs476990	0.89[EUR][1000 genomes]
rs484304	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs533379	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677585	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs677627	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:51168000-51173000	Enhancers	Fetal Intestine Small	intestine
3	chr13:51168000-51174000	Enhancers	Fetal Muscle Leg	muscle
4	chr13:51168000-51174400	Enhancers	Fetal Thymus	thymus
5	chr13:51168400-51174000	Enhancers	Left Ventricle	heart
6	chr13:51168800-51173800	Enhancers	Adipose Nuclei	Adipose
7	chr13:51169000-51173000	Enhancers	HepG2	liver
8	chr13:51169000-51174400	Enhancers	Fetal Heart	heart
9	chr13:51169200-51174000	Enhancers	Primary B cells from cord blood	blood
10	chr13:51169200-51174000	Enhancers	Thymus	Thymus
11	chr13:51169200-51174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:51169200-51174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:51169400-51173400	Enhancers	Right Atrium	heart
14	chr13:51169600-51173200	Weak transcription	Fetal Lung	lung
15	chr13:51169800-51174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:51169800-51175000	Enhancers	Dnd41	blood
17	chr13:51170200-51173400	Enhancers	Fetal Intestine Large	intestine
18	chr13:51170200-51173400	Enhancers	Right Ventricle	heart
19	chr13:51171400-51173200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:51171600-51174800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:51172000-51173400	Enhancers	GM12878-XiMat	blood
22	chr13:51172200-51173000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:51172200-51173400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:51172400-51172800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51172400-51173000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:51172400-51173400	Enhancers	Psoas Muscle	Psoas
27	chr13:51172600-51172800	Enhancers	Spleen	Spleen
28	chr13:51172600-51173000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr13:51172600-51173200	Enhancers	Fetal Kidney	kidney
30	chr13:51172600-51173400	Enhancers	Pancreas	Pancrea
31	chr13:51172600-51173800	Enhancers	Fetal Stomach	stomach
32	chr13:51172600-51174600	Enhancers	K562	blood

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