Variant report

Variant	rs7563917
Chromosome Location	chr2:77213103-77213104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL19-4	chr2:77213091-77213127	ENSG00000234653.1
2	lnc-MRPL19-4	chr2:77213091-77213127	NR_110284

Extended variants
information (count: 144 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10172719	0.81[CEU][hapmap]
rs10177731	0.88[CHB][hapmap]
rs10183619	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10183642	0.96[EUR][1000 genomes]
rs10186912	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs10187466	0.85[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10190179	0.81[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10190198	0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10190443	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10190510	0.96[CEU][hapmap]
rs10191141	0.94[CHB][hapmap]
rs10192262	0.94[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10193309	0.96[CEU][hapmap]
rs10196630	0.96[EUR][1000 genomes]
rs10196749	0.94[EUR][1000 genomes]
rs10196758	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs10196801	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10196895	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs10196939	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10198799	0.80[JPT][hapmap]
rs10199256	0.81[CEU][hapmap]
rs10201530	0.85[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10520176	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs11126575	0.84[CEU][hapmap]
rs11126576	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11896560	0.84[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11896587	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12621674	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12987907	0.89[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12992834	0.88[EUR][1000 genomes]
rs13013784	0.88[EUR][1000 genomes]
rs13385651	0.81[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs13385727	0.81[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs13385839	0.94[CHB][hapmap]
rs13393238	0.94[CHB][hapmap]
rs13422716	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs13427438	0.96[EUR][1000 genomes]
rs13427514	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1345136	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1348827	0.88[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs1348831	0.81[CEU][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1374388	0.80[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1374389	0.89[EUR][1000 genomes]
rs1374390	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs1446693	0.86[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1446695	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446697	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446698	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1446701	0.81[CEU][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1446702	0.88[EUR][1000 genomes]
rs1446703	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs1446704	0.81[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs1446705	0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1446707	0.81[CEU][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1446710	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1446712	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1446722	0.90[CEU][hapmap]
rs1446724	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs1446725	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs1470503	0.88[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1470504	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1470505	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1470506	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs1470507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470508	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1542186	0.81[CEU][hapmap]
rs1584235	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1584236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1584237	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1596913	0.96[CEU][hapmap]
rs17013340	0.94[CHB][hapmap]
rs17013341	0.89[CHB][hapmap]
rs17013455	0.94[CHB][hapmap]
rs17013592	0.81[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs17013595	0.81[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs1838880	0.94[EUR][1000 genomes]
rs1838881	0.94[EUR][1000 genomes]
rs1929452	0.94[CHB][hapmap]
rs1997468	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2028913	0.85[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2044485	0.94[JPT][hapmap]
rs2065375	0.94[CHB][hapmap]
rs2121409	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2121410	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2121411	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs2178574	0.94[CHB][hapmap]
rs2197603	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs2860872	0.89[CHB][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs2860934	0.83[CHB][hapmap]
rs2860937	0.96[EUR][1000 genomes]
rs2860938	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2901812	0.94[EUR][1000 genomes]
rs34372910	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34632326	0.89[EUR][1000 genomes]
rs35038238	0.88[EUR][1000 genomes]
rs35659577	0.88[EUR][1000 genomes]
rs4143794	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4143796	0.96[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4324338	0.96[CEU][hapmap]
rs4853283	0.85[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4853286	0.90[EUR][1000 genomes]
rs4853287	0.89[EUR][1000 genomes]
rs4853288	0.89[EUR][1000 genomes]
rs4853289	0.89[EUR][1000 genomes]
rs4853291	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56314043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547104	0.88[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6547110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6547114	0.81[CEU][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6547115	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6547116	0.84[EUR][1000 genomes]
rs6547117	0.84[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs6547118	0.81[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs6718391	0.90[EUR][1000 genomes]
rs6718440	0.88[EUR][1000 genomes]
rs6719689	0.85[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs6724799	0.84[YRI][hapmap]
rs6732462	0.81[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6739222	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs6743454	0.90[EUR][1000 genomes]
rs6751097	0.94[CHB][hapmap]
rs727000	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]
rs7422204	0.89[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap]
rs7561361	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7569624	0.83[EUR][1000 genomes]
rs7570003	0.80[JPT][hapmap]
rs7573982	0.81[CEU][hapmap]
rs7586363	0.83[CHB][hapmap]
rs7591186	0.88[EUR][1000 genomes]
rs7592470	0.94[CHB][hapmap]
rs7592608	0.94[CHB][hapmap]
rs7597923	0.92[ASW][hapmap];0.81[CEU][hapmap];0.86[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7601256	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7604936	0.88[EUR][1000 genomes]
rs7605187	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs765572	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs9309508	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9309509	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs953854	0.94[CHB][hapmap]
rs992313	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7563917	MRPL19	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77210600-77214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77210600-77214200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77211000-77214200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:77211600-77213800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:77211600-77214000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:77211600-77214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:77211600-77214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:77211600-77214000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:77211800-77213200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:77212600-77214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:77212800-77213400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:77212800-77214000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:77212800-77214400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:77213000-77213200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:77213000-77213200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:77213000-77213200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:77213000-77213400	Flanking Active TSS	HUVEC	blood vessel

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