Variant report

Variant	rs10804003
Chromosome Location	chr2:187056952-187056953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10186776	0.83[JPT][hapmap]
rs10193729	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs1026118	0.95[JPT][hapmap]
rs10804004	0.84[ASN][1000 genomes]
rs12467891	0.84[ASN][1000 genomes]
rs12469301	0.86[ASN][1000 genomes]
rs12478370	0.83[ASN][1000 genomes]
rs12623611	0.84[ASN][1000 genomes]
rs12993773	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13009502	0.81[ASN][1000 genomes]
rs13015996	0.84[ASN][1000 genomes]
rs13016181	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13016273	0.81[ASN][1000 genomes]
rs13018467	0.84[ASN][1000 genomes]
rs13023992	0.88[ASN][1000 genomes]
rs13024310	0.84[ASN][1000 genomes]
rs13029473	0.83[ASN][1000 genomes]
rs13029980	0.81[ASN][1000 genomes]
rs13403118	0.83[ASN][1000 genomes]
rs13420379	0.85[CHD][hapmap];0.87[JPT][hapmap]
rs13421394	0.88[ASN][1000 genomes]
rs1349154	0.95[JPT][hapmap]
rs1448854	0.95[JPT][hapmap]
rs1448856	0.84[ASN][1000 genomes]
rs1448858	0.84[ASN][1000 genomes]
rs1562646	0.95[JPT][hapmap]
rs16827561	0.86[ASN][1000 genomes]
rs2370661	0.87[JPT][hapmap]
rs2370667	0.80[ASN][1000 genomes]
rs2370675	0.86[ASN][1000 genomes]
rs2887819	0.80[ASN][1000 genomes]
rs3112322	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35437667	0.85[ASN][1000 genomes]
rs4271735	0.81[ASN][1000 genomes]
rs4305232	0.94[ASN][1000 genomes]
rs4341896	0.84[ASN][1000 genomes]
rs4430906	0.88[ASN][1000 genomes]
rs4569437	0.88[ASN][1000 genomes]
rs4608482	0.81[ASN][1000 genomes]
rs56347348	0.86[ASN][1000 genomes]
rs6704957	0.86[ASN][1000 genomes]
rs6715226	0.83[JPT][hapmap]
rs6715735	0.88[ASN][1000 genomes]
rs6726048	0.87[ASN][1000 genomes]
rs6742402	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6742943	0.80[ASN][1000 genomes]
rs6743356	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72903699	0.80[ASN][1000 genomes]
rs7557226	0.83[ASN][1000 genomes]
rs7579391	0.88[ASN][1000 genomes]
rs7580038	0.84[ASN][1000 genomes]
rs7599277	0.85[ASN][1000 genomes]

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	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1003369	chr2:186980675-187133740	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1014726	chr2:187036909-187213113	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv536078	chr2:187036909-187213113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10804003	ITGAV	cis	parietal	SCAN
rs10804003	FSIP2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187053800-187087600	Weak transcription	Aorta	Aorta
2	chr2:187056200-187057200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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