Variant report

Variant	rs2047778
Chromosome Location	chr18:45331774-45331775
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	chr18:45326881..45329354-chr18:45330178..45332901,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10853560	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11082638	0.84[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs11082639	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11082641	0.82[CEU][hapmap]
rs12454094	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12455876	0.81[EUR][1000 genomes]
rs12458238	0.89[CEU][hapmap]
rs12968107	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs12968493	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs12969725	0.89[CEU][hapmap]
rs13381619	0.91[CHB][hapmap]
rs1502606	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539871	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs1539872	0.84[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap]
rs1573363	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1613672	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1623734	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1625400	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1627974	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1631576	0.94[ASW][hapmap];0.96[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs17741998	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs1787176	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1787180	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1787183	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1787185	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1787186	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs1787189	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1787190	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1787193	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1787194	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1792655	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1792659	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792663	0.83[EUR][1000 genomes]
rs1792664	0.83[EUR][1000 genomes]
rs1792665	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792668	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs1792669	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1792670	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap]
rs1792671	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792674	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs1792675	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1792676	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1792677	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792679	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792680	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792681	0.88[CEU][hapmap];0.87[CHB][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792682	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1792683	0.94[ASW][hapmap];0.88[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs1792686	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1792687	0.92[CEU][hapmap]
rs1792688	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1847173	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981	0.92[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2000708	0.82[CEU][hapmap]
rs2000709	0.90[JPT][hapmap]
rs2012555	0.92[CEU][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs2096932	0.82[JPT][hapmap];0.96[YRI][hapmap]
rs2096933	0.82[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap]
rs2852972	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813068	0.94[ASW][hapmap];0.89[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs4940102	0.89[CEU][hapmap]
rs4940109	0.82[CEU][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs4940110	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs6507790	0.94[ASW][hapmap];0.85[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap]
rs6507791	0.92[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap]
rs7228393	0.84[ASW][hapmap];0.85[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7231538	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7233129	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs7236177	0.94[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap]
rs729112	0.92[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs747952	0.92[CEU][hapmap]
rs747953	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs765213	0.87[CHB][hapmap];0.93[YRI][hapmap]
rs8095519	0.84[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs8097580	0.91[CEU][hapmap]
rs8097912	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs8099127	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs948602	0.89[CEU][hapmap]
rs948603	0.92[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs948604	0.82[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs9946556	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9955626	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs9966964	0.83[ASW][hapmap];0.89[CEU][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425854	chr18:45188942-45336590	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2047778	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45326400-45342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:45327400-45358400	Weak transcription	HSMMtube	muscle
3	chr18:45327600-45352600	Weak transcription	Fetal Brain Female	brain
4	chr18:45328600-45351600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr18:45329400-45342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:45331400-45332000	Weak transcription	Pancreas	Pancrea

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