Variant report

Variant	rs943564
Chromosome Location	chr13:30276819-30276820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30276744..30278789-chr13:30280944..30283697,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1023162	0.90[ASN][1000 genomes]
rs1023163	0.90[ASN][1000 genomes]
rs1093774	0.90[ASN][1000 genomes]
rs12428341	0.86[ASN][1000 genomes]
rs2234417	1.00[CHB][hapmap]
rs2388240	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388243	0.87[ASN][1000 genomes]
rs2669033	0.83[ASN][1000 genomes]
rs280920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs280921	0.90[ASN][1000 genomes]
rs280948	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280957	0.90[ASN][1000 genomes]
rs280958	0.90[ASN][1000 genomes]
rs280959	0.86[ASN][1000 genomes]
rs280960	0.90[ASN][1000 genomes]
rs547522	0.83[ASN][1000 genomes]
rs563819	0.90[ASN][1000 genomes]
rs566688	0.86[ASN][1000 genomes]
rs598281	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs73157112	0.90[ASN][1000 genomes]
rs7326804	0.90[ASN][1000 genomes]
rs819102	0.90[ASN][1000 genomes]
rs819104	0.86[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs943564	B3GALTL	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30271800-30277400	Weak transcription	Esophagus	oesophagus
2	chr13:30272000-30277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30276200-30279000	Enhancers	NHEK	skin
4	chr13:30276600-30277000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30276600-30277200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30276600-30277200	Flanking Active TSS	Osteobl	bone
7	chr13:30276600-30277400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:30276600-30277600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:30276600-30277600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30276600-30277600	Flanking Active TSS	NHDF-Ad	bronchial
11	chr13:30276600-30277800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:30276600-30278200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr13:30276600-30279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:30276800-30277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:30276800-30277000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:30276800-30277000	Enhancers	Adipose Nuclei	Adipose
17	chr13:30276800-30277000	Flanking Active TSS	Hela-S3	cervix
18	chr13:30276800-30277000	Active TSS	NHLF	lung
19	chr13:30276800-30277200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:30276800-30277200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:30276800-30277200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:30276800-30277200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:30276800-30277200	Enhancers	Fetal Kidney	kidney
24	chr13:30276800-30277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:30276800-30277400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr13:30276800-30277400	Flanking Active TSS	HUVEC	blood vessel
27	chr13:30276800-30277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:30276800-30277600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:30276800-30277600	Enhancers	HSMM	muscle
30	chr13:30276800-30277600	Flanking Active TSS	NH-A	brain
31	chr13:30276800-30277800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:30276800-30277800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:30276800-30279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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