Variant report

Variant	rs9579518
Chromosome Location	chr13:30606408-30606409
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17074235	1.00[CEU][hapmap]
rs17503526	1.00[MEX][hapmap]
rs17504027	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap]
rs17504394	1.00[ASN][1000 genomes]
rs17587770	1.00[MEX][hapmap]
rs17587784	1.00[ASN][1000 genomes]
rs17588071	1.00[MEX][hapmap]
rs55804174	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55966797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56126555	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161515	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73161517	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73161519	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73448295	1.00[ASN][1000 genomes]
rs74042848	1.00[ASN][1000 genomes]
rs74043025	1.00[ASN][1000 genomes]
rs9579516	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9579519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579520	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
4	chr13:30600800-30607000	Weak transcription	NHLF	lung
5	chr13:30600800-30607200	Weak transcription	HSMM	muscle
6	chr13:30600800-30607200	Weak transcription	HSMMtube	muscle
7	chr13:30602200-30606800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:30602200-30607200	Weak transcription	NH-A	brain
9	chr13:30602400-30607400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30602600-30607200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:30602800-30607000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:30602800-30607200	Weak transcription	Osteobl	bone
13	chr13:30603400-30606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:30604400-30606800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:30604800-30606800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:30605000-30606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:30605000-30606600	Weak transcription	NHDF-Ad	bronchial
18	chr13:30606000-30611800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:30606200-30608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:30606400-30606800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:30606400-30607600	Enhancers	Esophagus	oesophagus

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