Variant report

Variant	rs11945319
Chromosome Location	chr4:86691595-86691596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1014642	0.82[EUR][1000 genomes]
rs11097071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498959	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505724	0.83[EUR][1000 genomes]
rs12506038	0.82[EUR][1000 genomes]
rs12507198	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12507272	0.82[GIH][hapmap]
rs12508919	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509904	0.83[GIH][hapmap];0.88[MEX][hapmap]
rs12510148	0.83[EUR][1000 genomes]
rs13102863	0.82[EUR][1000 genomes]
rs13106553	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13108523	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs13110928	0.82[EUR][1000 genomes]
rs13127367	0.82[EUR][1000 genomes]
rs13136153	0.83[EUR][1000 genomes]
rs13137575	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13139248	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17010851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1966862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2004613	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34056429	0.82[EUR][1000 genomes]
rs34820504	0.82[EUR][1000 genomes]
rs35472747	0.83[EUR][1000 genomes]
rs3889735	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4693127	0.91[EUR][1000 genomes]
rs4693734	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4693735	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4693736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58146546	0.82[EUR][1000 genomes]
rs6813860	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs71599423	0.82[EUR][1000 genomes]
rs7676486	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes]
rs900204	0.83[GIH][hapmap];0.88[MEX][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11945319	MRPS18C	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
4	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86683800-86695200	Weak transcription	HMEC	breast
6	chr4:86684600-86695800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86684800-86695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
9	chr4:86686200-86695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:86687800-86693600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:86688600-86694400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:86688600-86694400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:86688600-86694400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:86688600-86696800	Weak transcription	Fetal Kidney	kidney
15	chr4:86691000-86694400	Weak transcription	HUVEC	blood vessel

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