Variant report

Variant	rs7148179
Chromosome Location	chr14:40832156-40832157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10141455	0.93[ASN][1000 genomes]
rs11157132	0.91[ASN][1000 genomes]
rs11620683	0.93[ASN][1000 genomes]
rs11625307	0.97[ASN][1000 genomes]
rs11626515	0.97[ASN][1000 genomes]
rs12881520	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882831	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569790	0.93[ASN][1000 genomes]
rs1952934	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1955539	0.93[ASN][1000 genomes]
rs1955555	0.87[ASN][1000 genomes]
rs1958895	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28455979	0.97[ASN][1000 genomes]
rs4356389	0.80[ASN][1000 genomes]
rs4903651	0.93[ASN][1000 genomes]
rs4903690	0.96[ASN][1000 genomes]
rs7160818	0.93[ASN][1000 genomes]
rs8006883	0.88[ASN][1000 genomes]
rs8007008	0.88[ASN][1000 genomes]
rs962061	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751272	chr14:40216880-40913230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv901663	chr14:40640214-40879975	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1817307	chr14:40647649-40833306	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv901664	chr14:40663978-41432350	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1040019	chr14:40674730-40891003	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv542050	chr14:40674730-40891003	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901666	chr14:40701679-40859517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv901667	chr14:40701679-40863379	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1045746	chr14:40759826-40852546	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3424823	chr14:40816251-40835900	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv983769	chr14:40823617-40852104	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv901669	chr14:40832004-41432350	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7148179	TSPYL5	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40831200-40832800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr14:40831200-40833000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:40831200-40833200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:40831200-40835800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:40831400-40832800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:40831600-40832200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:40831600-40832800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:40831800-40832200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:40831800-40832600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:40832000-40832600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:40832000-40832600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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