Variant report

Variant	rs4737457
Chromosome Location	chr8:54955055-54955056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10101097	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113246	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs10504161	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1050523	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10958396	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10958397	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11783652	0.82[CHB][hapmap]
rs11986577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991952	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap]
rs11993367	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993959	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11994629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11996666	0.93[ASN][1000 genomes]
rs11997954	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056381	0.93[ASN][1000 genomes]
rs12114043	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12674671	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12676510	0.89[ASN][1000 genomes]
rs12677696	0.85[EUR][1000 genomes]
rs12679542	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs16919699	0.81[CHB][hapmap]
rs16919782	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs16919784	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1828835	0.89[ASN][1000 genomes]
rs2037068	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271567	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2292590	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2375697	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28494618	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4440612	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4506187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515510	0.92[ASN][1000 genomes]
rs4737479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4737485	0.85[ASN][1000 genomes]
rs4737486	0.89[ASN][1000 genomes]
rs4737487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4738556	0.93[ASN][1000 genomes]
rs4738564	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4738586	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57872947	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58387069	0.89[ASN][1000 genomes]
rs58419852	0.89[ASN][1000 genomes]
rs58929175	0.93[ASN][1000 genomes]
rs58948369	0.88[ASN][1000 genomes]
rs59882028	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60183530	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61213253	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61271559	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61319412	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61477279	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6473900	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6473909	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6473911	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs6473914	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6473915	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6983694	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009781	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011379	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011430	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7012031	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap]
rs72614663	0.92[ASN][1000 genomes]
rs72614664	0.93[ASN][1000 genomes]
rs72614665	0.93[ASN][1000 genomes]
rs72614666	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72614667	0.89[ASN][1000 genomes]
rs72614668	0.87[ASN][1000 genomes]
rs7463083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7463261	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464767	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815216	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842911	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9298497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952194	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9643823	0.93[ASN][1000 genomes]
rs9643824	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs981638	0.81[ASN][1000 genomes]

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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4737457	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54935400-54962800	Weak transcription	HSMMtube	muscle
2	chr8:54935600-54955600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:54935600-54956600	Weak transcription	Pancreas	Pancrea
4	chr8:54935600-54956600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:54935600-54956600	Weak transcription	HUVEC	blood vessel
6	chr8:54935600-54963000	Weak transcription	Thymus	Thymus
7	chr8:54938400-54955400	Weak transcription	NHEK	skin
8	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:54942800-54956600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:54943800-54955600	Weak transcription	Lung	lung
11	chr8:54944000-54955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:54944000-54966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:54944200-54956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:54944200-54957000	Weak transcription	Fetal Intestine Large	intestine
16	chr8:54944200-54957000	Weak transcription	K562	blood
17	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:54945800-54955400	Weak transcription	Placenta	Placenta
19	chr8:54945800-54955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:54945800-54960600	Weak transcription	HMEC	breast
21	chr8:54945800-54961000	Weak transcription	Fetal Lung	lung
22	chr8:54946000-54955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:54946200-54956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:54946400-54955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:54946400-54955200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:54946400-54955400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:54946400-54955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:54946400-54955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:54946400-54956800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:54946400-54961600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
32	chr8:54947000-54957200	Weak transcription	Primary T cells from cord blood	blood
33	chr8:54947200-54956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:54947200-54960800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:54947200-54964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:54947600-54956400	Weak transcription	Spleen	Spleen
37	chr8:54947800-54961600	Weak transcription	Esophagus	oesophagus
38	chr8:54948200-54955200	Weak transcription	A549	lung
39	chr8:54948600-54955200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:54948800-54956400	Weak transcription	HepG2	liver
41	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
42	chr8:54949800-54999400	Weak transcription	NHLF	lung
43	chr8:54950400-54961400	Weak transcription	Small Intestine	intestine
44	chr8:54950800-54956200	Weak transcription	Liver	Liver
45	chr8:54951400-54956000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:54951400-54964800	Weak transcription	Fetal Kidney	kidney
47	chr8:54951600-54956800	Weak transcription	Hela-S3	cervix
48	chr8:54951800-54955200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:54952200-54955600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:54953000-54960800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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