Variant report

Variant	rs4233309
Chromosome Location	chr1:215381726-215381727
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	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10127656	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs10779639	0.84[CHB][hapmap]
rs10779640	0.85[CHB][hapmap]
rs10779644	0.84[CHB][hapmap]
rs10779645	0.89[CHB][hapmap]
rs10779647	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs10779649	0.80[CHD][hapmap]
rs10779651	0.80[CHD][hapmap]
rs10864166	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11120499	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs11120508	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs11120511	0.89[CHB][hapmap]
rs11120513	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs11120519	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11120581	0.92[CEU][hapmap]
rs11583745	0.88[CEU][hapmap]
rs12031308	0.89[CHB][hapmap]
rs12038616	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12038695	0.96[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12120091	0.90[CHB][hapmap]
rs12121761	0.85[CHB][hapmap]
rs12129983	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143339	0.85[CHB][hapmap]
rs12740245	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12753507	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1339405	0.85[CHB][hapmap]
rs1339406	0.84[CHB][hapmap]
rs1538547	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556905	0.85[CHB][hapmap]
rs1556907	0.83[ASN][1000 genomes]
rs17024500	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs2027320	0.90[CHB][hapmap];0.95[CHD][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs2363564	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs2363565	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs2363566	0.80[CHD][hapmap]
rs2363567	0.80[CHD][hapmap]
rs2885812	0.82[CHB][hapmap]
rs2885815	0.85[CHB][hapmap]
rs4271184	0.80[CHB][hapmap]
rs4411107	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs4497183	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs4509553	0.85[CHB][hapmap]
rs4531266	0.83[CHB][hapmap]
rs4556330	0.80[CHB][hapmap]
rs4655391	0.85[CHB][hapmap]
rs4655392	0.84[CHB][hapmap]
rs5025775	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6540886	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs6540887	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs6666828	0.85[CHB][hapmap]
rs6667764	0.85[CHB][hapmap]
rs6670661	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6672978	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs7417100	0.85[CHB][hapmap]
rs7513709	0.85[CHB][hapmap]
rs7522552	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7541543	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs7549136	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
2	nsv873170	chr1:215367248-215440975	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4233309	G0S2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215375000-215387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215378600-215383600	Weak transcription	NHDF-Ad	bronchial
3	chr1:215380400-215384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215380600-215408000	Weak transcription	Osteobl	bone

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