Variant report

Variant	rs1949952
Chromosome Location	chr7:16229128-16229129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10264415	0.80[EUR][1000 genomes]
rs10487915	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1527208	0.87[EUR][1000 genomes]
rs1527209	0.85[EUR][1000 genomes]
rs1527219	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1527220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1527221	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528136	0.84[CEU][hapmap]
rs17286418	0.82[EUR][1000 genomes]
rs17287882	0.87[EUR][1000 genomes]
rs17358277	0.82[EUR][1000 genomes]
rs17359183	0.86[EUR][1000 genomes]
rs17359294	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17458603	0.87[EUR][1000 genomes]
rs17672493	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1918259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918260	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1918266	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1918267	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1978253	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2058269	0.80[EUR][1000 genomes]
rs35150436	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3857709	0.84[EUR][1000 genomes]
rs4621696	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4721485	0.87[EUR][1000 genomes]
rs56024841	0.88[EUR][1000 genomes]
rs56161298	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61282805	0.83[EUR][1000 genomes]
rs62440374	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62440376	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62440394	0.87[EUR][1000 genomes]
rs62440406	0.87[EUR][1000 genomes]
rs62442360	0.87[EUR][1000 genomes]
rs62442361	0.82[EUR][1000 genomes]
rs6956986	0.88[EUR][1000 genomes]
rs6961874	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963052	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974124	0.88[EUR][1000 genomes]
rs73056339	0.87[EUR][1000 genomes]
rs7778438	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs987932	0.92[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv887738	chr7:16211553-16284139	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv887739	chr7:16216494-16284139	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv887740	chr7:16216494-16286261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv887741	chr7:16216494-16300179	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1949952	ANKMY2	cis	parietal	SCAN
rs1949952	SOSTDC1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16228600-16229800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:16228800-16229200	Enhancers	HSMMtube	muscle
3	chr7:16228800-16229400	Enhancers	Fetal Brain Female	brain
4	chr7:16228800-16230200	Weak transcription	Left Ventricle	heart

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