Variant report

Variant	rs35905244
Chromosome Location	chr11:73431746-73431747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12791140	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12793342	0.95[EUR][1000 genomes]
rs12793550	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12799377	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];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]
rs34671213	0.93[EUR][1000 genomes]
rs34963286	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35079634	0.91[EUR][1000 genomes]
rs35130893	0.91[EUR][1000 genomes]
rs35132278	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35235512	0.95[EUR][1000 genomes]
rs35427699	1.00[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	1.00[EUR][1000 genomes]
rs35820405	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35854818	0.87[AMR][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]
rs56321536	0.91[AMR][1000 genomes]
rs7111217	0.87[AMR][1000 genomes]
rs71479535	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71479536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71479541	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71479550	0.95[EUR][1000 genomes]
rs7931475	0.85[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs7932786	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938019	0.85[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7940050	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7945891	0.85[CEU][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35905244	MRPL48	cis	Muscle Skeletal	GTEx
rs35905244	MRPL48	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
2	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
3	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
5	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
6	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
9	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
15	chr11:73413400-73440400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
17	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
18	chr11:73415000-73436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
20	chr11:73417000-73440400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
22	chr11:73418200-73443400	Weak transcription	Brain Germinal Matrix	brain
23	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:73422400-73443400	Weak transcription	Spleen	Spleen
25	chr11:73422400-73454000	Weak transcription	Gastric	stomach
26	chr11:73422800-73436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
28	chr11:73424000-73431800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:73424600-73432400	Strong transcription	HepG2	liver
30	chr11:73426000-73432600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:73426800-73435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:73427600-73445600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:73427800-73433800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:73428000-73431800	Strong transcription	Hela-S3	cervix
35	chr11:73428000-73436200	Weak transcription	A549	lung
36	chr11:73428000-73445600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:73428400-73432600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:73428600-73432200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:73428600-73440400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:73428800-73431800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:73428800-73432000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:73428800-73432400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:73428800-73432400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:73429000-73431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:73429000-73445400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:73429200-73432000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:73429200-73432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:73429200-73432200	Strong transcription	Liver	Liver
50	chr11:73429200-73432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links