Variant report

Variant	rs7932786
Chromosome Location	chr11:73445787-73445788
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	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12793342	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12793550	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12799377	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34302239	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34375414	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34572223	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34671213	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34963286	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35079634	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35130893	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35132278	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35235512	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35427699	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35435292	0.87[AMR][1000 genomes]
rs35455701	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35686018	0.87[AMR][1000 genomes]
rs35749087	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35820405	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35854818	0.87[AMR][1000 genomes]
rs35905244	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35922896	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35937266	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55788366	0.91[AMR][1000 genomes]
rs56159953	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56321536	0.91[AMR][1000 genomes]
rs7111217	0.87[AMR][1000 genomes]
rs71479535	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71479536	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71479541	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479550	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7931475	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7938019	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940050	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7945891	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946127	0.87[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	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7932786	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
4	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
7	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
8	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
9	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
10	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
11	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:73422400-73454000	Weak transcription	Gastric	stomach
13	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
14	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73429800-73446000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:73430000-73445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:73430000-73446200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:73430000-73450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:73430000-73451600	Weak transcription	HSMMtube	muscle
20	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:73430200-73446200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:73430200-73448000	Weak transcription	Lung	lung
23	chr11:73430600-73446000	Weak transcription	NHDF-Ad	bronchial
24	chr11:73430600-73446200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:73430600-73446400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:73430600-73446400	Weak transcription	NH-A	brain
27	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:73430600-73462800	Weak transcription	HMEC	breast
30	chr11:73430600-73468800	Weak transcription	NHLF	lung
31	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:73431200-73447800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
35	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:73432000-73465200	Weak transcription	NHEK	skin
38	chr11:73432600-73453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:73435400-73448200	Weak transcription	Hela-S3	cervix
40	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
41	chr11:73436800-73446000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:73436800-73458600	Weak transcription	K562	blood
43	chr11:73436800-73458800	Weak transcription	A549	lung
44	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:73437000-73451000	Weak transcription	Liver	Liver
46	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:73440800-73446000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:73441000-73445800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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