Variant report

Variant	rs4737479
Chromosome Location	chr8:54999795-54999796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54996725..55000204-chr8:55012427..55016239,5	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10101097	0.87[ASN][1000 genomes]
rs10113246	0.83[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs10504161	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs1050523	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10958396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958397	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11783652	0.82[CHB][hapmap]
rs11986577	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs11991952	0.87[CHB][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap]
rs11993367	0.89[ASN][1000 genomes]
rs11993959	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs11994629	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11996128	0.89[EUR][1000 genomes]
rs11996666	0.86[ASN][1000 genomes]
rs11997954	0.86[ASN][1000 genomes]
rs12056381	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12114043	0.81[CHB][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap]
rs12674671	0.86[ASN][1000 genomes]
rs12674895	0.89[EUR][1000 genomes]
rs12676510	0.82[ASN][1000 genomes]
rs12679103	0.90[EUR][1000 genomes]
rs12679542	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs16919699	0.80[CHB][hapmap]
rs16919782	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs16919784	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs1828835	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.92[EUR][1000 genomes]
rs2292590	0.91[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.92[EUR][1000 genomes]
rs2375696	0.90[EUR][1000 genomes]
rs2375697	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28494618	0.85[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.84[ASN][1000 genomes]
rs4506187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4515510	0.85[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737485	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737487	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737488	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs4738556	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58387069	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58419852	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58929175	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58948369	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59882028	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61271559	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61319412	0.86[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6473900	0.86[ASN][1000 genomes]
rs6473909	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473911	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6473914	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs6473915	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs6983694	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009781	0.85[ASN][1000 genomes]
rs7011379	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012031	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs72614663	0.85[ASN][1000 genomes]
rs72614664	0.86[ASN][1000 genomes]
rs72614665	0.86[ASN][1000 genomes]
rs72614666	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72614667	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72614668	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72614670	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72614671	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7463083	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs7463261	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464767	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.84[ASN][1000 genomes]
rs7815216	0.84[ASN][1000 genomes]
rs7842911	0.93[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9298497	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs952194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643823	0.86[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4737479	MRPL15	cis	lymphoblastoid	seeQTL
rs4737479	MRPL15	Cis_1M	lymphoblastoid	RTeQTL
rs4737479	TCEA1	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
4	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:54974800-55002200	Weak transcription	Gastric	stomach
6	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:54986200-55000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:54992000-55006800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:54995600-55007000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:54996000-55008800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr8:54997400-55000200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:54997400-55000400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
14	chr8:54997400-55000800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:54997400-55005000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:54997600-55000200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:54997600-55000200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr8:54997600-55000200	ZNF genes & repeats	Esophagus	oesophagus
19	chr8:54997600-55002000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:54997800-55002000	Weak transcription	Fetal Heart	heart
21	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
22	chr8:54998000-55002600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:54998200-55000200	ZNF genes & repeats	Thymus	Thymus
24	chr8:54998200-55000400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr8:54998600-55004600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr8:54998800-55000200	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr8:54999000-55000000	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr8:54999000-55000200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:54999000-55000200	Strong transcription	Primary T cells from cord blood	blood
30	chr8:54999000-55000200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr8:54999000-55000200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr8:54999000-55000200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr8:54999000-55000200	ZNF genes & repeats	K562	blood
34	chr8:54999000-55000400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr8:54999000-55000400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr8:54999000-55000400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr8:54999000-55001600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr8:54999000-55003400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:54999000-55004800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:54999000-55005800	ZNF genes & repeats	Dnd41	blood
41	chr8:54999000-55006200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:54999200-54999800	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr8:54999200-54999800	Strong transcription	HepG2	liver
44	chr8:54999200-55000000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
45	chr8:54999200-55000000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:54999200-55000000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr8:54999200-55000000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:54999200-55000000	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr8:54999200-55000000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr8:54999200-55000000	ZNF genes & repeats	Fetal Thymus	thymus

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