Variant report

Variant	rs35132278
Chromosome Location	chr11:73411300-73411301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
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	0.88[AFR][1000 genomes];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	0.94[AFR][1000 genomes];0.83[AMR][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]
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];0.82[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];1.00[ASN][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];0.82[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: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
rs35132278	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 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	chr11:73385800-73411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
11	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
14	chr11:73390800-73429600	Weak transcription	NHLF	lung
15	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:73392200-73411400	Weak transcription	Fetal Lung	lung
17	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:73395600-73416200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:73395800-73412600	Weak transcription	Thymus	Thymus
20	chr11:73396000-73411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:73396400-73411400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:73399000-73412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:73399600-73412400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:73400000-73416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:73400200-73414600	Weak transcription	Ovary	ovary
28	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
29	chr11:73400600-73412600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:73400600-73412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73400600-73412800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:73400600-73412800	Weak transcription	Aorta	Aorta
33	chr11:73400600-73421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:73400800-73412200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:73400800-73416200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:73400800-73422000	Weak transcription	Spleen	Spleen
37	chr11:73401000-73412600	Weak transcription	Esophagus	oesophagus
38	chr11:73401000-73412800	Weak transcription	HUVEC	blood vessel
39	chr11:73401000-73416400	Weak transcription	Fetal Kidney	kidney
40	chr11:73401200-73412200	Weak transcription	GM12878-XiMat	blood
41	chr11:73402000-73422200	Weak transcription	Hela-S3	cervix
42	chr11:73402600-73412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:73404400-73420200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:73404400-73424200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73404400-73427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:73404800-73420400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:73405000-73412800	Weak transcription	Lung	lung
48	chr11:73405000-73421800	Weak transcription	Pancreas	Pancrea
49	chr11:73405200-73412000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:73405200-73414400	Weak transcription	Brain Germinal Matrix	brain

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