Variant report

Variant	rs727000
Chromosome Location	chr2:77240314-77240315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10172719	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs10183094	1.00[CEU][hapmap]
rs10183619	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs10183642	0.86[EUR][1000 genomes]
rs10186912	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs10190179	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10190198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190443	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10190510	0.84[CEU][hapmap]
rs10192262	0.84[GIH][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap]
rs10193309	0.84[CEU][hapmap]
rs10196630	0.86[EUR][1000 genomes]
rs10196749	0.85[EUR][1000 genomes]
rs10196758	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs10196801	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs10196895	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs10196939	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs10199256	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap]
rs10201530	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10520176	0.81[MEX][hapmap]
rs12621674	0.88[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs12987907	0.83[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs12992834	0.92[EUR][1000 genomes]
rs13013784	0.92[EUR][1000 genomes]
rs13021476	0.83[JPT][hapmap]
rs13422716	0.84[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs13427438	0.86[EUR][1000 genomes]
rs13427514	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs1345136	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348824	0.83[YRI][hapmap]
rs1348826	0.83[YRI][hapmap]
rs1348827	0.82[ASW][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap]
rs1348831	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1374388	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374389	0.92[EUR][1000 genomes]
rs1374390	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1374392	0.83[JPT][hapmap]
rs1446693	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1446695	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446697	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446698	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1446701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446702	0.91[EUR][1000 genomes]
rs1446703	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1446704	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs1446705	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1446707	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446710	0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1446712	0.84[EUR][1000 genomes]
rs1446724	0.84[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs1446725	0.84[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs1470504	0.84[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1470505	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs1470506	0.86[EUR][1000 genomes]
rs1470507	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1470508	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs1542186	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1584234	0.83[YRI][hapmap]
rs1584235	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs1584236	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1584237	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs1596913	0.84[CEU][hapmap]
rs17013592	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs17013595	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs17040496	0.83[JPT][hapmap]
rs1838880	0.85[EUR][1000 genomes]
rs1838881	0.85[EUR][1000 genomes]
rs2028913	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121409	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121410	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs2121411	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs2197603	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2860937	0.86[EUR][1000 genomes]
rs2860938	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2901812	0.84[EUR][1000 genomes]
rs34372910	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34632326	0.90[EUR][1000 genomes]
rs35038238	0.92[EUR][1000 genomes]
rs35659577	0.92[EUR][1000 genomes]
rs4143794	0.84[EUR][1000 genomes]
rs4143796	0.86[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4324338	0.88[CEU][hapmap]
rs4853286	0.90[EUR][1000 genomes]
rs4853287	0.91[EUR][1000 genomes]
rs4853288	0.91[EUR][1000 genomes]
rs4853289	0.91[EUR][1000 genomes]
rs4853291	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56314043	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6547108	0.83[JPT][hapmap]
rs6547110	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6547114	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6547115	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547116	0.92[EUR][1000 genomes]
rs6547117	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs6547118	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs6718391	0.90[EUR][1000 genomes]
rs6718440	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6724799	0.89[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs6732462	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737296	0.83[JPT][hapmap]
rs6739222	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6743454	0.90[EUR][1000 genomes]
rs7422204	0.82[GIH][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap]
rs7561361	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563917	0.92[ASW][hapmap];0.81[CEU][hapmap];0.91[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7569624	0.91[EUR][1000 genomes]
rs7573982	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs7591186	0.92[EUR][1000 genomes]
rs7597923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604936	0.92[EUR][1000 genomes]
rs7605187	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765572	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs992313	0.82[MEX][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007408	chr2:77235194-77255152	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs727000	MRPL19	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77232000-77245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:77236800-77240400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:77237000-77243800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:77237000-77245400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:77237600-77243600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:77237800-77243600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:77238000-77245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:77238200-77244000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:77238200-77244200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:77239200-77244200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:77239600-77240400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:77239600-77240600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:77240200-77240600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:77240200-77240600	Enhancers	Fetal Lung	lung
15	chr2:77240200-77240800	Enhancers	Adipose Nuclei	Adipose
16	chr2:77240200-77241400	Enhancers	Gastric	stomach

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