Variant report

Variant	rs2367188
Chromosome Location	chr11:73385458-73385459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10793065	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10793066	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898931	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898935	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898936	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235861	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235862	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235876	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235883	0.81[ASN][1000 genomes]
rs11602887	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12420357	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12788229	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1404976	0.80[AMR][1000 genomes]
rs2367187	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2886816	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104603	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7119055	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938731	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9705336	0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2367188	MRPL48	cis	multi-tissue	Pritchard
rs2367188	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs2367188	MRPL48	cis	Whole Blood	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
2	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:73372600-73385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:73372600-73388400	Weak transcription	Dnd41	blood
7	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
8	chr11:73372800-73388400	Weak transcription	NHLF	lung
9	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel
10	chr11:73373400-73388200	Weak transcription	Fetal Thymus	thymus
11	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
12	chr11:73374400-73427200	Weak transcription	A549	lung
13	chr11:73374800-73388800	Weak transcription	GM12878-XiMat	blood
14	chr11:73375200-73387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:73375200-73388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:73375200-73388400	Weak transcription	Fetal Lung	lung
17	chr11:73375200-73388800	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:73375400-73385600	Weak transcription	Primary T cells from cord blood	blood
20	chr11:73375400-73387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:73375400-73387800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:73375400-73387800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:73375400-73387800	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:73375400-73388200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:73375400-73388200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:73375400-73388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:73375400-73388400	Weak transcription	Brain Angular Gyrus	brain
28	chr11:73375800-73386000	Weak transcription	HSMM	muscle
29	chr11:73375800-73387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:73375800-73388200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:73375800-73388400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:73375800-73400000	Weak transcription	Lung	lung
33	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:73376000-73388200	Weak transcription	Brain Substantia Nigra	brain
35	chr11:73376000-73388400	Weak transcription	HepG2	liver
36	chr11:73376200-73388400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:73376200-73390400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:73376200-73395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:73376200-73398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:73376400-73388200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:73376600-73399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:73376600-73400000	Weak transcription	Spleen	Spleen
43	chr11:73376800-73388800	Weak transcription	Fetal Kidney	kidney
44	chr11:73377000-73400000	Weak transcription	Psoas Muscle	Psoas
45	chr11:73377200-73388200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:73377200-73388600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:73379400-73388600	Weak transcription	K562	blood
48	chr11:73381400-73389000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:73381800-73400000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:73382200-73399000	Weak transcription	Primary hematopoietic stem cells	blood

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