Variant report

Variant	rs4372028
Chromosome Location	chr8:117771775-117771776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr8:117771379-117771814	GM12878	blood:	n/a	chr8:117771596-117771614 chr8:117771595-117771612
2	PAX5	chr8:117771431-117771783	GM12878	blood:	n/a	chr8:117771596-117771614 chr8:117771595-117771612
3	PAX5	chr8:117771402-117771836	GM12891	blood:	n/a	chr8:117771596-117771614 chr8:117771595-117771612
4	PAX5	chr8:117771456-117771792	GM12878	blood:	n/a	chr8:117771596-117771614 chr8:117771595-117771612
5	PAX5	chr8:117771473-117771796	GM12892	blood:	n/a	chr8:117771596-117771614 chr8:117771595-117771612

No.	Distal block	Cell Line	Cell type
1	chr8:117769605..117772487-chr8:117772969..117774566,2	MCF-7	breast:
2	chr8:117771578..117774293-chr8:117778925..117781694,2	MCF-7	breast:
3	chr8:117768143..117769702-chr8:117769715..117771805,2	MCF-7	breast:

Variant related genes	Relation type
EIF3H	TF binding region
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10089815	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094452	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10095889	0.91[ASN][1000 genomes]
rs10104144	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109369	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10283122	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10283129	0.85[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505284	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10505285	0.84[YRI][hapmap]
rs10808485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775890	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs11776214	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11781754	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11783824	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12546186	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12547063	0.83[YRI][hapmap]
rs12547108	0.83[EUR][1000 genomes]
rs12548402	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675074	0.81[ASN][1000 genomes]
rs12675093	0.85[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs13250873	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13258789	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13266314	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13268448	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1374299	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1436767	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16888705	0.84[YRI][hapmap]
rs16888709	0.84[YRI][hapmap]
rs16888721	0.83[YRI][hapmap]
rs17663673	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17664079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867841	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2121339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34672734	0.80[ASN][1000 genomes]
rs34701891	0.82[ASN][1000 genomes]
rs35682273	0.82[ASN][1000 genomes]
rs35792844	0.89[AFR][1000 genomes]
rs41339048	0.84[YRI][hapmap]
rs4145242	0.83[ASN][1000 genomes]
rs4449824	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4464999	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4514005	0.89[ASN][1000 genomes]
rs4532623	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876365	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4876671	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876672	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876673	0.81[AFR][1000 genomes]
rs4876675	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876677	0.89[AFR][1000 genomes]
rs4876679	0.81[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4876680	0.89[ASN][1000 genomes]
rs62510194	0.86[ASN][1000 genomes]
rs6469659	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs6469660	0.85[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6981932	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6983034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988190	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990665	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6992589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995838	0.83[EUR][1000 genomes]
rs7006087	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011256	0.85[AFR][1000 genomes]
rs7013007	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014156	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7817878	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823870	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7828774	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7836226	0.80[ASN][1000 genomes]
rs7843792	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4372028	MRPL13	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117768400-117771800	Weak transcription	Stomach Mucosa	stomach
2	chr8:117768800-117771800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:117768800-117777600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:117768800-117778000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:117769200-117771800	Weak transcription	K562	blood
6	chr8:117769200-117777600	Weak transcription	Dnd41	blood
7	chr8:117769400-117774000	Weak transcription	HepG2	liver
8	chr8:117769400-117777800	Weak transcription	Hela-S3	cervix
9	chr8:117771400-117772200	Enhancers	Esophagus	oesophagus
10	chr8:117771400-117772200	Enhancers	GM12878-XiMat	blood
11	chr8:117771600-117771800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
12	chr8:117771600-117771800	Enhancers	Spleen	Spleen
13	chr8:117771600-117772000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:117771600-117772400	Enhancers	Rectal Mucosa Donor 31	rectum

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