Variant report

Variant	rs2218080
Chromosome Location	chr5:44714330-44714331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44714004..44716250-chr5:44719055..44721965,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10064434	0.85[EUR][1000 genomes]
rs1048758	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs10512865	0.86[EUR][1000 genomes]
rs1061310	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs11741772	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11746506	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs11746980	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11747159	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11949847	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188871	0.95[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs12515012	0.87[EUR][1000 genomes]
rs12651949	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs13155698	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13159598	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs13160259	0.86[EUR][1000 genomes]
rs13174122	0.81[CHB][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs13177711	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs13179137	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183209	0.86[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs13189120	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1371023	0.84[EUR][1000 genomes]
rs1371025	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs1438819	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1438820	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs1438825	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1438827	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap]
rs16901937	0.86[EUR][1000 genomes]
rs16901964	0.81[ASN][1000 genomes]
rs1821934	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866406	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1898701	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013513	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2118764	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2165009	0.87[EUR][1000 genomes]
rs2218081	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2330572	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877172	0.83[EUR][1000 genomes]
rs3761648	0.95[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs3761650	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs4457089	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap]
rs6451770	0.86[ASN][1000 genomes]
rs6861560	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6867533	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs6868232	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6872254	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6896350	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs6896417	0.86[EUR][1000 genomes]
rs714130	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs727304	0.85[CHB][hapmap]
rs727305	0.95[CHB][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs7380559	0.86[EUR][1000 genomes]
rs7711136	0.86[EUR][1000 genomes]
rs7711697	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7716571	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs7717459	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7720787	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs7730841	0.86[EUR][1000 genomes]
rs920329	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs9637783	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][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	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2218080	MRPS30	cis	cerebellum	SCAN
rs2218080	RP11-53O19.3	cis	Nerve Tibial	GTEx
rs2218080	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44706800-44729200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:44713600-44714400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:44713800-44715000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:44714000-44715200	Weak transcription	Fetal Stomach	stomach

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