Variant report

Variant	rs34302239
Chromosome Location	chr11:73400690-73400691
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12791140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793342	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12793550	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12799377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572223	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34963286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35079634	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35130893	0.83[AMR][1000 genomes]
rs35132278	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35235512	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35427699	0.91[AMR][1000 genomes]
rs35435292	0.96[AMR][1000 genomes]
rs35455701	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35686018	0.96[AMR][1000 genomes]
rs35749087	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35820405	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35854818	0.96[AMR][1000 genomes]
rs35905244	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35922896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937266	0.83[AMR][1000 genomes]
rs36011596	0.83[AFR][1000 genomes]
rs55788366	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159953	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56321536	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111217	0.96[AMR][1000 genomes]
rs71479535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479536	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71479541	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71479550	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7931475	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7932786	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7938019	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7940050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945891	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7946127	0.96[AMR][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34302239	MRPL48	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
5	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
6	chr11:73382400-73421600	Weak transcription	Gastric	stomach
7	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
8	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:73384800-73401800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:73385800-73411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:73387400-73410800	Weak transcription	Colonic Mucosa	Colon
13	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
14	chr11:73389200-73400800	Strong transcription	Fetal Intestine Small	intestine
15	chr11:73389200-73404800	Weak transcription	K562	blood
16	chr11:73389200-73410600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
20	chr11:73389400-73404800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:73390800-73429600	Weak transcription	NHLF	lung
22	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:73391800-73400800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:73392200-73411400	Weak transcription	Fetal Lung	lung
25	chr11:73394400-73400800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:73394400-73401800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:73394800-73401000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:73394800-73401600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:73394800-73402200	Strong transcription	Fetal Intestine Large	intestine
31	chr11:73395600-73416200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:73395800-73412600	Weak transcription	Thymus	Thymus
33	chr11:73396000-73410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:73396000-73411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:73396200-73404600	Weak transcription	Fetal Brain Female	brain
37	chr11:73396200-73409600	Weak transcription	NHDF-Ad	bronchial
38	chr11:73396400-73408000	Weak transcription	HSMMtube	muscle
39	chr11:73396400-73411400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:73397200-73401200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:73397200-73401400	Strong transcription	NHEK	skin
42	chr11:73397400-73404600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:73397400-73404800	Weak transcription	HMEC	breast
44	chr11:73397800-73401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73397800-73402400	Strong transcription	Placenta	Placenta
46	chr11:73397800-73410200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:73398000-73401000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:73398200-73401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73398200-73408600	Strong transcription	Fetal Stomach	stomach

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