Variant report

Variant	rs2303220
Chromosome Location	chr16:71988728-71988729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1035543	0.87[ASW][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10492825	0.90[CHB][hapmap]
rs10852508	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852509	0.85[CHB][hapmap]
rs11642001	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs11647844	0.88[ASN][1000 genomes]
rs11647947	0.88[ASN][1000 genomes]
rs12051425	0.94[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.92[YRI][hapmap]
rs12445043	0.88[ASN][1000 genomes]
rs12445713	0.88[ASN][1000 genomes]
rs12447423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12448111	0.86[ASN][1000 genomes]
rs12600163	0.90[JPT][hapmap]
rs12708920	0.88[ASN][1000 genomes]
rs12921355	0.90[CHB][hapmap]
rs12925901	1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12926353	0.88[ASN][1000 genomes]
rs12927381	0.88[ASN][1000 genomes]
rs13332180	0.92[GIH][hapmap];0.85[JPT][hapmap];0.88[MKK][hapmap]
rs13337118	0.84[ASN][1000 genomes]
rs16973520	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs17286411	0.81[JPT][hapmap]
rs2291947	0.90[JPT][hapmap]
rs2878406	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4462592	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4538017	0.92[GIH][hapmap];0.90[JPT][hapmap];0.88[MKK][hapmap]
rs4788567	0.92[GIH][hapmap];0.90[JPT][hapmap];0.88[MKK][hapmap]
rs4788587	0.80[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.87[EUR][1000 genomes]
rs58114621	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58609735	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60075093	0.85[ASN][1000 genomes]
rs62053839	0.88[EUR][1000 genomes]
rs7186518	0.86[ASN][1000 genomes]
rs7186712	0.88[ASN][1000 genomes]
rs7204798	0.87[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap]
rs8046159	0.88[ASN][1000 genomes]
rs8046703	0.91[ASN][1000 genomes]
rs8051124	0.88[ASN][1000 genomes]
rs8051364	0.88[ASN][1000 genomes]
rs8052028	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053891	0.85[CHB][hapmap]
rs8055242	0.90[CHB][hapmap]
rs952159	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs952160	0.90[CHB][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9889100	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9921705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922596	0.95[EUR][1000 genomes]
rs9925462	0.85[CHB][hapmap]
rs9925684	0.82[ASN][1000 genomes]
rs9928413	0.85[CHB][hapmap]
rs9933095	0.96[YRI][hapmap]
rs9938025	0.81[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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
5	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv572950	chr16:71988728-72020323	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2303220	MARVELD3	cis	lymphoblastoid	seeQTL
rs2303220	E2F4	cis	cerebellum	SCAN
rs2303220	FBXL8	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71986800-71988800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:71986800-71989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71987600-71989200	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:71987800-71990200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:71988200-71989400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:71988200-71990200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:71988200-71990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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