Variant report

Variant	rs35820405
Chromosome Location	chr11:73383636-73383637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12791140	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793342	0.83[AMR][1000 genomes]
rs12793550	0.83[AMR][1000 genomes]
rs12799377	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34302239	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375414	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572223	0.83[AMR][1000 genomes]
rs34963286	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35079634	0.83[AMR][1000 genomes]
rs35130893	0.83[AMR][1000 genomes]
rs35132278	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35235512	0.83[AMR][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	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35854818	0.96[AMR][1000 genomes]
rs35905244	0.91[AMR][1000 genomes];0.82[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]
rs55788366	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321536	1.00[AMR][1000 genomes];0.86[EUR][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];0.82[EUR][1000 genomes]
rs71479541	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71479550	0.83[AMR][1000 genomes]
rs7931475	0.83[AMR][1000 genomes]
rs7932786	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7938019	0.83[AMR][1000 genomes]
rs7940050	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945891	0.83[AMR][1000 genomes]
rs7946127	0.96[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35820405	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
3	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:73372600-73384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73372600-73385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:73372600-73385200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:73372600-73385200	Weak transcription	Liver	Liver
8	chr11:73372600-73385200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:73372600-73385400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:73372600-73385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:73372600-73388400	Weak transcription	Dnd41	blood
14	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:73372800-73385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:73372800-73385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:73372800-73385400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:73372800-73388400	Weak transcription	NHLF	lung
19	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel
20	chr11:73373400-73388200	Weak transcription	Fetal Thymus	thymus
21	chr11:73374200-73385400	Weak transcription	Osteobl	bone
22	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
23	chr11:73374400-73427200	Weak transcription	A549	lung
24	chr11:73374800-73388800	Weak transcription	GM12878-XiMat	blood
25	chr11:73375200-73385000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:73375200-73385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:73375200-73385200	Weak transcription	Thymus	Thymus
28	chr11:73375200-73385400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:73375200-73387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:73375200-73388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:73375200-73388400	Weak transcription	Fetal Lung	lung
32	chr11:73375200-73388800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:73375400-73384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:73375400-73385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:73375400-73385200	Weak transcription	Aorta	Aorta
37	chr11:73375400-73385600	Weak transcription	Primary T cells from cord blood	blood
38	chr11:73375400-73387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:73375400-73387800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:73375400-73387800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:73375400-73387800	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:73375400-73388200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:73375400-73388200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73375400-73388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:73375400-73388400	Weak transcription	Brain Angular Gyrus	brain
46	chr11:73375800-73385400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:73375800-73386000	Weak transcription	HSMM	muscle
48	chr11:73375800-73387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:73375800-73388200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:73375800-73388400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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