Variant report

Variant	rs2037068
Chromosome Location	chr8:54975175-54975176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10101097	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113246	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050523	0.90[ASN][1000 genomes]
rs10958396	0.85[ASN][1000 genomes]
rs11986577	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993367	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994629	0.89[ASN][1000 genomes]
rs11996666	0.93[ASN][1000 genomes]
rs11997954	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056381	0.93[ASN][1000 genomes]
rs12674671	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12676510	0.89[ASN][1000 genomes]
rs12677696	0.82[EUR][1000 genomes]
rs1828835	0.89[ASN][1000 genomes]
rs2375697	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28494618	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4440612	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4506187	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515510	0.92[ASN][1000 genomes]
rs4737457	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737479	0.89[ASN][1000 genomes]
rs4737485	0.85[ASN][1000 genomes]
rs4737486	0.89[ASN][1000 genomes]
rs4737487	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737488	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738519	0.91[ASN][1000 genomes]
rs4738556	0.93[ASN][1000 genomes]
rs4738564	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4738586	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57872947	0.83[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	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60183530	0.85[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	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61319412	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61477279	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6473900	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6473909	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6983694	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009781	0.83[AMR][1000 genomes];0.81[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]
rs72614663	0.92[ASN][1000 genomes]
rs72614664	0.93[ASN][1000 genomes]
rs72614665	0.93[ASN][1000 genomes]
rs72614666	0.85[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]
rs7463261	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464767	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815216	0.90[ASN][1000 genomes]
rs7842911	0.81[EUR][1000 genomes]
rs9298497	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952194	0.83[ASN][1000 genomes]
rs9643823	0.93[ASN][1000 genomes]
rs9643824	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs981638	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2037068	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
4	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
5	chr8:54949800-54999400	Weak transcription	NHLF	lung
6	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
13	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:54960600-54977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:54960600-54977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:54960800-54977400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:54960800-54977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:54960800-54978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
22	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
23	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
26	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
27	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
28	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:54964600-54978000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
31	chr8:54966400-54979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:54966400-54991800	Weak transcription	NH-A	brain
33	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
34	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
35	chr8:54966600-54979200	Weak transcription	Fetal Brain Male	brain
36	chr8:54966600-54983000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:54966600-54991800	Weak transcription	Osteobl	bone
38	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:54967200-54975600	Weak transcription	Hela-S3	cervix
40	chr8:54967200-54983200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:54967200-54983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:54967200-54999200	Weak transcription	Ovary	ovary
44	chr8:54967400-54976400	Weak transcription	Brain Anterior Caudate	brain
45	chr8:54967600-54981000	Weak transcription	HSMM	muscle
46	chr8:54968000-54976200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:54968600-54977200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:54968800-54976000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:54968800-54977800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:54969200-54976200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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