Variant report

Variant	rs35749087
Chromosome Location	chr11:73449994-73449995
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	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12793342	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12793550	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12799377	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34302239	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34375414	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34572223	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34671213	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34963286	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35079634	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35130893	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35132278	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35235512	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35427699	0.88[EUR][1000 genomes]
rs35435292	0.82[AMR][1000 genomes]
rs35455701	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35686018	0.82[AMR][1000 genomes]
rs35820405	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35854818	0.82[AMR][1000 genomes]
rs35905244	1.00[EUR][1000 genomes]
rs35922896	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35937266	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55788366	0.87[AMR][1000 genomes]
rs56159953	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56321536	0.87[AMR][1000 genomes]
rs7111217	0.82[AMR][1000 genomes]
rs71479535	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71479536	1.00[EUR][1000 genomes]
rs71479541	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479550	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7931475	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932786	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938019	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940050	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7945891	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946127	0.82[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
rs35749087	MRPL48	cis	Muscle Skeletal	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
3	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
4	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
5	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73422400-73454000	Weak transcription	Gastric	stomach
7	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:73430000-73450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:73430000-73451600	Weak transcription	HSMMtube	muscle
10	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:73430600-73462800	Weak transcription	HMEC	breast
14	chr11:73430600-73468800	Weak transcription	NHLF	lung
15	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
18	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:73432000-73465200	Weak transcription	NHEK	skin
21	chr11:73432600-73453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
23	chr11:73436800-73458600	Weak transcription	K562	blood
24	chr11:73436800-73458800	Weak transcription	A549	lung
25	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:73437000-73451000	Weak transcription	Liver	Liver
27	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:73441000-73458800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73441200-73451400	Weak transcription	Fetal Lung	lung
32	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
33	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:73441200-73468600	Weak transcription	Dnd41	blood
35	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:73441600-73456600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:73441800-73462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:73442200-73458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:73442200-73469600	Weak transcription	HSMM	muscle
40	chr11:73442400-73461600	Weak transcription	HUVEC	blood vessel
41	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:73442600-73460800	Weak transcription	Pancreas	Pancrea
43	chr11:73443400-73452200	Weak transcription	Right Atrium	heart
44	chr11:73446000-73451400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:73446200-73450400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:73446400-73451200	Weak transcription	Brain Angular Gyrus	brain
47	chr11:73446400-73453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:73446400-73459000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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