Variant report

Variant	rs34375414
Chromosome Location	chr11:73414920-73414921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12791140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793342	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12793550	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12799377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302239	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]
rs34671213	0.84[EUR][1000 genomes]
rs34963286	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35079634	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35130893	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35132278	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35235512	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35427699	0.91[AMR][1000 genomes]
rs35435292	0.96[AMR][1000 genomes]
rs35455701	1.00[AMR][1000 genomes];0.93[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];0.91[EUR][1000 genomes]
rs35820405	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35854818	0.96[AMR][1000 genomes]
rs35905244	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35922896	1.00[AMR][1000 genomes];0.95[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];1.00[ASN][1000 genomes]
rs56159953	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56321536	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111217	0.96[AMR][1000 genomes]
rs71479535	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479536	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71479541	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71479550	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7931475	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7932786	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7938019	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7940050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945891	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7946127	0.96[AMR][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	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
7	nsv975363	chr11:73411321-73426936	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34375414	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
4	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
5	chr11:73382400-73421600	Weak transcription	Gastric	stomach
6	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
7	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
10	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
13	chr11:73390800-73429600	Weak transcription	NHLF	lung
14	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:73395600-73416200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:73400000-73416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
21	chr11:73400600-73421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:73400800-73416200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:73400800-73422000	Weak transcription	Spleen	Spleen
24	chr11:73401000-73416400	Weak transcription	Fetal Kidney	kidney
25	chr11:73402000-73422200	Weak transcription	Hela-S3	cervix
26	chr11:73404400-73420200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:73404800-73420400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:73405000-73421800	Weak transcription	Pancreas	Pancrea
31	chr11:73405200-73416200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:73405200-73416800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:73405400-73416800	Weak transcription	K562	blood
35	chr11:73405400-73422000	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:73405400-73426400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:73406400-73418600	Strong transcription	Placenta	Placenta
38	chr11:73406400-73419000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:73407800-73418800	Strong transcription	Liver	Liver
41	chr11:73408200-73422800	Strong transcription	Osteobl	bone
42	chr11:73409600-73415200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:73409600-73415400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:73409600-73419400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:73410000-73418400	Strong transcription	Fetal Stomach	stomach
47	chr11:73410000-73419400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:73410000-73419600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:73410000-73423000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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