Variant report

Variant	rs13186183
Chromosome Location	chr5:1791180-1791181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1018120	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs10447190	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs11953620	0.85[CHB][hapmap]
rs11959171	0.82[ASN][1000 genomes]
rs12515616	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13170104	0.81[ASN][1000 genomes]
rs13171074	0.85[ASN][1000 genomes]
rs13173081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13185340	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13186705	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs13187053	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13187184	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270826	0.84[ASN][1000 genomes]
rs2353590	0.92[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs34303309	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3776147	0.82[ASN][1000 genomes]
rs3776148	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs3776150	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs41411146	0.85[CHB][hapmap]
rs4975732	0.85[CHB][hapmap]
rs4975735	0.85[CHB][hapmap]
rs4975842	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4975843	0.96[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4975844	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975846	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs4975847	0.85[ASN][1000 genomes]
rs4975854	0.85[CHB][hapmap]
rs58460883	0.83[ASN][1000 genomes]
rs6859186	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6881166	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6881496	0.88[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs6888984	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7444823	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs750495	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13186183	MRPL36	Cis_1M	lymphoblastoid	RTeQTL
rs13186183	MRPL36	cis	Muscle Skeletal	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1785200-1795000	Weak transcription	Spleen	Spleen
2	chr5:1785200-1796000	Weak transcription	Thymus	Thymus
3	chr5:1786800-1796000	Weak transcription	Gastric	stomach
4	chr5:1788400-1792200	Enhancers	GM12878-XiMat	blood
5	chr5:1789000-1791600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:1789000-1795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:1789200-1792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
10	chr5:1789400-1791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:1789400-1792800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:1789400-1795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:1789600-1791400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr5:1789800-1792800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr5:1790000-1791200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:1790000-1792800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:1790000-1792800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:1790200-1791400	Enhancers	HMEC	breast
19	chr5:1790200-1792400	Enhancers	Primary T cells from cord blood	blood
20	chr5:1790200-1793200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:1790200-1795600	Enhancers	Fetal Muscle Leg	muscle
22	chr5:1790200-1796200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:1790400-1791400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:1790400-1794200	Weak transcription	Fetal Heart	heart
25	chr5:1790400-1795600	Enhancers	NHDF-Ad	bronchial
26	chr5:1790400-1796400	Weak transcription	Brain Anterior Caudate	brain
27	chr5:1790400-1796800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:1790600-1791200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:1790600-1791200	Enhancers	NHEK	skin
30	chr5:1790600-1791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:1790600-1791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:1790600-1791600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:1790600-1791600	Enhancers	Brain Germinal Matrix	brain
34	chr5:1790600-1791800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:1790600-1791800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:1790600-1792800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:1790600-1793200	Enhancers	HSMM	muscle
38	chr5:1790600-1793800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:1790600-1794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:1790600-1794400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:1790600-1796200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:1790600-1796400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:1790600-1796600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:1790600-1797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:1790600-1797000	Weak transcription	Fetal Lung	lung
46	chr5:1790600-1797800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:1790800-1791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:1790800-1791200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:1790800-1792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:1790800-1793800	Enhancers	HUVEC	blood vessel

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