Variant report

Variant	rs1792154
Chromosome Location	chr11:73621405-73621406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73497615..73500434-chr11:73618806..73621694,2	MCF-7	breast:
2	chr11:73617245..73618912-chr11:73620792..73622524,2	K562	blood:
3	chr11:73603516..73606235-chr11:73619849..73622149,2	K562	blood:
4	chr11:73586625..73589063-chr11:73619935..73622224,2	K562	blood:
5	chr11:73618940..73621720-chr11:73623819..73626215,2	MCF-7	breast:
6	chr11:73616333..73618912-chr11:73619802..73622524,4	K562	blood:

Variant related genes	Relation type
ENSG00000175581	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10793067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898946	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1095399	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235960	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1632159	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1670537	0.82[ASN][1000 genomes]
rs1670540	0.82[ASN][1000 genomes]
rs1670543	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1670549	0.80[ASN][1000 genomes]
rs1670551	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670557	0.83[ASN][1000 genomes]
rs1670559	0.82[ASN][1000 genomes]
rs1670562	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1670564	0.82[ASN][1000 genomes]
rs1670565	0.82[ASN][1000 genomes]
rs1670569	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792156	0.81[ASN][1000 genomes]
rs1792160	0.81[ASN][1000 genomes]
rs1792161	0.81[ASN][1000 genomes]
rs1792170	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792183	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1792184	0.83[ASN][1000 genomes]
rs1792198	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2444601	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511271	0.80[ASN][1000 genomes]
rs2511272	0.82[ASN][1000 genomes]
rs2515093	0.82[ASN][1000 genomes]
rs612914	0.80[EUR][1000 genomes]
rs7934784	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1792154	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
4	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
5	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
6	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
7	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
10	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:73602000-73622800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73602000-73624000	Weak transcription	Psoas Muscle	Psoas
13	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:73604400-73623400	Weak transcription	Fetal Kidney	kidney
15	chr11:73606600-73630000	Weak transcription	A549	lung
16	chr11:73606800-73638200	Weak transcription	NHLF	lung
17	chr11:73607200-73628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:73611000-73628200	Weak transcription	Gastric	stomach
19	chr11:73611200-73628600	Weak transcription	Esophagus	oesophagus
20	chr11:73611600-73621800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:73611600-73622200	Weak transcription	Spleen	Spleen
22	chr11:73611600-73624800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:73611600-73624800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:73611600-73625000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:73611600-73627800	Weak transcription	NHDF-Ad	bronchial
26	chr11:73611600-73628600	Weak transcription	Aorta	Aorta
27	chr11:73611600-73630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:73611800-73622200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73611800-73629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:73612400-73622200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:73613000-73640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:73613600-73621600	Weak transcription	HSMM	muscle
33	chr11:73613600-73622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:73613600-73624200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:73613600-73625000	Weak transcription	NHEK	skin
36	chr11:73613800-73623000	Weak transcription	NH-A	brain
37	chr11:73614400-73630000	Weak transcription	Hela-S3	cervix
38	chr11:73615400-73622200	Strong transcription	Fetal Intestine Large	intestine
39	chr11:73615400-73640800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:73615800-73625000	Strong transcription	Liver	Liver
41	chr11:73615800-73633400	Strong transcription	Primary T cells from cord blood	blood
42	chr11:73615800-73633600	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:73615800-73641400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:73616000-73633400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:73616200-73623400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:73617000-73625000	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:73618000-73628200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:73618200-73627000	Strong transcription	Fetal Stomach	stomach

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