Variant report

Variant	rs2444601
Chromosome Location	chr11:73611016-73611017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10793067	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10898946	0.88[ASN][1000 genomes]
rs1095399	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1632159	0.88[ASN][1000 genomes]
rs1670537	0.84[ASN][1000 genomes]
rs1670540	0.84[ASN][1000 genomes]
rs1670543	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1670549	0.82[ASN][1000 genomes]
rs1670551	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670557	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1670559	0.88[ASN][1000 genomes]
rs1670562	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1670564	0.84[ASN][1000 genomes]
rs1670565	0.84[ASN][1000 genomes]
rs1670569	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1670570	0.81[ASN][1000 genomes]
rs1792154	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792156	0.82[ASN][1000 genomes]
rs1792160	0.82[ASN][1000 genomes]
rs1792161	0.82[ASN][1000 genomes]
rs1792165	0.81[ASN][1000 genomes]
rs1792170	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792176	0.81[ASN][1000 genomes]
rs1792183	0.88[ASN][1000 genomes]
rs1792184	0.88[ASN][1000 genomes]
rs1792193	0.82[ASN][1000 genomes]
rs1792198	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2444603	0.82[ASN][1000 genomes]
rs2444606	0.85[ASN][1000 genomes]
rs2511271	0.82[ASN][1000 genomes]
rs2511272	0.84[ASN][1000 genomes]
rs2515093	0.84[ASN][1000 genomes]
rs7934784	0.83[AMR][1000 genomes];0.90[ASN][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	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
2	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
3	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
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	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
rs2444601	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
2	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
3	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
6	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
7	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
8	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
9	chr11:73589200-73611200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:73590000-73611200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:73591600-73618000	Weak transcription	K562	blood
13	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:73598800-73611200	Weak transcription	Hela-S3	cervix
15	chr11:73600400-73618000	Weak transcription	Fetal Heart	heart
16	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
17	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:73601800-73611200	Weak transcription	HepG2	liver
19	chr11:73602000-73622800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:73602000-73624000	Weak transcription	Psoas Muscle	Psoas
21	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:73603000-73613200	Weak transcription	Brain Germinal Matrix	brain
23	chr11:73603400-73612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:73603400-73612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:73604400-73623400	Weak transcription	Fetal Kidney	kidney
26	chr11:73605200-73618400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:73606600-73630000	Weak transcription	A549	lung
28	chr11:73606800-73638200	Weak transcription	NHLF	lung
29	chr11:73607000-73611200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:73607200-73628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:73609600-73611600	Strong transcription	GM12878-XiMat	blood
32	chr11:73609600-73611800	Strong transcription	Fetal Brain Female	brain
33	chr11:73609600-73613600	Strong transcription	Left Ventricle	heart
34	chr11:73609600-73613800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:73609600-73613800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:73609600-73613800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:73609600-73614200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73609600-73614200	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:73609600-73614400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:73609600-73614400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:73609600-73614600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:73609600-73614600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:73609800-73612000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr11:73609800-73612600	Strong transcription	HSMMtube	muscle
45	chr11:73609800-73613600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:73609800-73613800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:73609800-73614200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:73609800-73614400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:73609800-73614400	Strong transcription	Liver	Liver
50	chr11:73609800-73614400	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links