Variant report

Variant	rs6718860
Chromosome Location	chr2:178643119-178643120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10178473	0.96[ASN][1000 genomes]
rs10178858	0.96[ASN][1000 genomes]
rs10178916	0.96[ASN][1000 genomes]
rs10179500	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10182017	0.97[ASN][1000 genomes]
rs10182353	0.94[ASN][1000 genomes]
rs10185318	0.94[ASN][1000 genomes]
rs10202536	0.90[ASN][1000 genomes]
rs13389387	0.85[ASN][1000 genomes]
rs13395965	0.99[ASN][1000 genomes]
rs13396065	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13396537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13421315	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13421345	0.99[ASN][1000 genomes]
rs13421415	0.86[ASN][1000 genomes]
rs1344923	0.81[CHD][hapmap];0.86[TSI][hapmap]
rs1438040	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1438042	0.99[ASN][1000 genomes]
rs1438060	0.81[JPT][hapmap]
rs1438062	0.81[JPT][hapmap]
rs1530035	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1530036	0.84[ASN][1000 genomes]
rs1898585	0.89[ASN][1000 genomes]
rs2365895	0.81[JPT][hapmap]
rs28380215	0.94[ASN][1000 genomes]
rs2886499	0.81[JPT][hapmap]
rs2886500	0.81[JPT][hapmap]
rs3754996	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3770044	0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs3770045	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3770048	0.81[JPT][hapmap]
rs3821010	0.81[JPT][hapmap]
rs41440047	0.81[JPT][hapmap]
rs4297923	0.96[ASN][1000 genomes]
rs4413189	0.81[JPT][hapmap]
rs4446096	0.81[JPT][hapmap]
rs4464321	0.94[ASN][1000 genomes]
rs4487116	0.86[ASN][1000 genomes]
rs4522644	0.81[JPT][hapmap]
rs56314683	0.99[ASN][1000 genomes]
rs56690966	0.99[ASN][1000 genomes]
rs56760518	0.84[ASN][1000 genomes]
rs57342997	0.99[ASN][1000 genomes]
rs62183048	0.85[ASN][1000 genomes]
rs62183050	0.86[ASN][1000 genomes]
rs62184507	0.82[ASN][1000 genomes]
rs6433694	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6433698	0.81[JPT][hapmap]
rs6705118	0.80[JPT][hapmap]
rs6706739	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6708580	0.92[ASN][1000 genomes]
rs6709966	0.99[ASN][1000 genomes]
rs6714147	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6718100	0.98[ASN][1000 genomes]
rs6718657	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6718993	0.99[ASN][1000 genomes]
rs6720891	0.81[JPT][hapmap]
rs6726253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6726502	0.99[ASN][1000 genomes]
rs6733980	0.96[ASN][1000 genomes]
rs6735387	0.84[ASN][1000 genomes]
rs6737872	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6743821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6751656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6752264	0.99[ASN][1000 genomes]
rs6758508	0.99[ASN][1000 genomes]
rs6758543	0.84[JPT][hapmap]
rs7557283	0.80[JPT][hapmap]
rs7562835	0.81[YRI][hapmap]
rs7563242	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7568068	0.81[JPT][hapmap]
rs7570898	0.80[JPT][hapmap]
rs7581861	0.81[JPT][hapmap]
rs7584946	0.81[ASN][1000 genomes]
rs7605091	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs934802	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583690	chr2:178638381-178712283	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178638000-178647600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:178642800-178643200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:178642800-178643400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:178642800-178643400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:178643000-178643600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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