Variant report

Variant	rs1930814
Chromosome Location	chr13:39841482-39841483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1413052	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1413053	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1413054	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1413055	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1413056	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1930815	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026521	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151459	0.81[EUR][1000 genomes]
rs2324246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324247	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324248	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324250	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2324251	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2875295	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332638	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4941920	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7317911	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7320591	0.80[EUR][1000 genomes]
rs7338797	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7982031	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7987049	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7987225	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7988506	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7992698	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7994390	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7999468	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9315670	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs944867	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944868	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9548719	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548720	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548721	0.82[EUR][1000 genomes]
rs9548727	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9576774	0.85[EUR][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	nsv900007	chr13:39801283-39849423	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1930814	LHFP	cis	parietal	SCAN
rs1930814	MRPS31	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39834200-39842600	Weak transcription	Right Atrium	heart
2	chr13:39836200-39842600	Weak transcription	Aorta	Aorta
3	chr13:39838000-39841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:39838000-39842600	Weak transcription	Left Ventricle	heart
5	chr13:39841000-39841800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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