Variant report

Variant	rs7011379
Chromosome Location	chr8:54992301-54992302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
2	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:
3	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:
4	chr8:54992135..54993902-chr8:55013226..55015593,2	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10101097	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10113246	0.84[ASN][1000 genomes]
rs10216491	0.87[EUR][1000 genomes]
rs1039926	0.89[EUR][1000 genomes]
rs10504161	0.89[EUR][1000 genomes]
rs1050523	0.82[ASN][1000 genomes]
rs10958396	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10958397	0.89[EUR][1000 genomes]
rs11984645	0.86[EUR][1000 genomes]
rs11984672	0.86[EUR][1000 genomes]
rs11986577	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11991952	0.86[EUR][1000 genomes]
rs11993367	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993959	0.89[EUR][1000 genomes]
rs11994629	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996666	0.84[ASN][1000 genomes]
rs11997954	0.84[ASN][1000 genomes]
rs12056381	0.84[ASN][1000 genomes]
rs12114043	0.89[EUR][1000 genomes]
rs12114739	0.88[EUR][1000 genomes]
rs12674671	0.84[ASN][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs12679542	0.91[EUR][1000 genomes]
rs12681024	0.85[EUR][1000 genomes]
rs13276927	0.87[EUR][1000 genomes]
rs13277185	0.87[EUR][1000 genomes]
rs16919782	0.88[EUR][1000 genomes]
rs16919784	0.89[EUR][1000 genomes]
rs1828835	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2008122	0.88[EUR][1000 genomes]
rs2037068	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292589	0.91[EUR][1000 genomes]
rs2375697	0.83[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34168614	0.91[EUR][1000 genomes]
rs4440612	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4506187	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737479	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737485	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4737486	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737487	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737488	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4738519	0.83[ASN][1000 genomes]
rs4738556	0.84[ASN][1000 genomes]
rs4738586	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738678	0.88[EUR][1000 genomes]
rs57872947	0.86[ASN][1000 genomes]
rs58387069	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58419852	0.90[ASN][1000 genomes]
rs58929175	0.84[ASN][1000 genomes]
rs58948369	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59882028	0.83[ASN][1000 genomes]
rs60183530	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61213253	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61271559	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61319412	0.84[ASN][1000 genomes]
rs61477279	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6473900	0.84[ASN][1000 genomes]
rs6473909	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6473911	0.91[EUR][1000 genomes]
rs6473913	0.88[EUR][1000 genomes]
rs6473914	0.89[EUR][1000 genomes]
rs6473915	0.88[EUR][1000 genomes]
rs6983694	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011430	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7012031	0.89[EUR][1000 genomes]
rs71517558	0.87[EUR][1000 genomes]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.84[ASN][1000 genomes]
rs72614665	0.84[ASN][1000 genomes]
rs72614666	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72614667	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72614668	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72614670	0.81[EUR][1000 genomes]
rs72614671	0.92[EUR][1000 genomes]
rs7463261	0.83[ASN][1000 genomes]
rs7464767	0.83[ASN][1000 genomes]
rs7815216	0.82[ASN][1000 genomes]
rs7830051	0.91[EUR][1000 genomes]
rs7842911	0.94[EUR][1000 genomes]
rs9298497	0.82[ASN][1000 genomes]
rs952194	0.84[ASN][1000 genomes]
rs9643823	0.84[ASN][1000 genomes]
rs9643824	0.83[ASN][1000 genomes]
rs981638	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7011379	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
2	chr8:54949800-54999400	Weak transcription	NHLF	lung
3	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
9	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
10	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
11	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
13	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
14	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
15	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:54967200-54999200	Weak transcription	Ovary	ovary
17	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
19	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
20	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:54974800-55002200	Weak transcription	Gastric	stomach
22	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:54975800-54999200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:54975800-54999600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:54982600-54999400	Weak transcription	HSMM	muscle
26	chr8:54983800-54999200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:54984000-55005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:54985000-54999200	Weak transcription	Fetal Brain Female	brain
29	chr8:54986000-54997600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:54986000-54999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:54986200-55000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:54987400-54994800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:54988000-54999000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:54988800-54993600	Strong transcription	Fetal Intestine Small	intestine
35	chr8:54989200-54999200	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:54989400-54994200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:54989400-54995200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:54989400-54996400	Strong transcription	A549	lung
39	chr8:54989600-54993000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:54989600-54994200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:54989600-54994200	Strong transcription	GM12878-XiMat	blood
42	chr8:54989600-54995000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:54989600-54995200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:54989600-54999000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:54989800-54994400	Strong transcription	HUVEC	blood vessel
46	chr8:54990000-54995400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:54990000-54999000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:54990400-54999200	Weak transcription	HMEC	breast
49	chr8:54990600-54993000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:54990600-54994200	Strong transcription	Fetal Muscle Leg	muscle

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