Variant report

Variant	rs58419852
Chromosome Location	chr8:55008601-55008602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55007468..55010231-chr8:55019347..55021686,2	K562	blood:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:55006677..55009466-chr8:55047209..55049239,2	MCF-7	breast:
4	chr8:55008237..55011334-chr8:55014384..55018005,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction
ENSG00000120992	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10101097	0.86[ASN][1000 genomes]
rs10113246	0.82[ASN][1000 genomes]
rs1050523	0.83[ASN][1000 genomes]
rs10958396	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986577	0.82[ASN][1000 genomes]
rs11993367	0.89[ASN][1000 genomes]
rs11994629	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996666	0.85[ASN][1000 genomes]
rs11997954	0.85[ASN][1000 genomes]
rs12056381	0.85[ASN][1000 genomes]
rs12674671	0.85[ASN][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs1828835	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.80[EUR][1000 genomes]
rs2292590	0.80[EUR][1000 genomes]
rs2375697	0.84[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs4440612	0.84[ASN][1000 genomes]
rs4506187	0.89[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737479	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737485	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737486	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737487	0.94[ASN][1000 genomes]
rs4737488	0.96[ASN][1000 genomes]
rs4738519	0.84[ASN][1000 genomes]
rs4738556	0.85[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58387069	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929175	0.85[ASN][1000 genomes]
rs58948369	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59882028	0.84[ASN][1000 genomes]
rs60183530	1.00[ASN][1000 genomes]
rs61213253	0.94[ASN][1000 genomes]
rs61271559	0.96[ASN][1000 genomes]
rs61319412	0.85[ASN][1000 genomes]
rs61477279	0.90[ASN][1000 genomes]
rs6473900	0.85[ASN][1000 genomes]
rs6473909	0.97[ASN][1000 genomes]
rs6983694	1.00[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011379	0.90[ASN][1000 genomes]
rs7011430	0.95[ASN][1000 genomes]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.85[ASN][1000 genomes]
rs72614665	0.85[ASN][1000 genomes]
rs72614666	1.00[ASN][1000 genomes]
rs72614667	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614668	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.88[ASN][1000 genomes]
rs7463261	0.84[ASN][1000 genomes]
rs7464767	0.84[ASN][1000 genomes]
rs7815216	0.83[ASN][1000 genomes]
rs7842911	0.88[ASN][1000 genomes]
rs9298497	0.83[ASN][1000 genomes]
rs952194	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.85[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58419852	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
3	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:54996000-55008800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
7	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
8	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
9	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:55000200-55009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:55000200-55009800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:55000200-55010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:55000200-55010400	Weak transcription	Lung	lung
15	chr8:55000200-55011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:55000200-55011400	Weak transcription	NH-A	brain
17	chr8:55000200-55011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:55000200-55011800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:55000200-55012600	Weak transcription	Osteobl	bone
20	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
25	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:55000200-55013400	Weak transcription	Ovary	ovary
28	chr8:55000400-55009800	Weak transcription	Liver	Liver
29	chr8:55000400-55012600	Weak transcription	NHDF-Ad	bronchial
30	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
31	chr8:55000400-55012800	Weak transcription	NHLF	lung
32	chr8:55000600-55010400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:55001200-55011000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:55001800-55011600	Weak transcription	HUVEC	blood vessel
35	chr8:55001800-55012000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:55002400-55012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:55002800-55009600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:55002800-55012800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:55002800-55012800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:55002800-55013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:55003000-55012000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:55003400-55010200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:55003400-55011400	Strong transcription	A549	lung
44	chr8:55003600-55012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:55003800-55008800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:55003800-55009800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:55003800-55012800	Weak transcription	Fetal Brain Female	brain
48	chr8:55003800-55012800	Weak transcription	Thymus	Thymus
49	chr8:55004400-55009800	Strong transcription	Primary B cells from cord blood	blood
50	chr8:55004600-55012600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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