Variant report

Variant	rs10805428
Chromosome Location	chr5:68561479-68561480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1134774	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11739602	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12188270	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520485	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13161541	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13163459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178023	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13182409	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1976101	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2054974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054975	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054976	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2130756	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2327638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2327639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932789	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932793	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972357	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972379	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972384	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972385	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34261117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34449359	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34591347	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34657177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350092	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350096	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350118	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs350121	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4367248	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4423955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668139	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6865178	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71622283	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7706902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7711657	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv965550	chr5:68556472-68572197	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10805428	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs10805428	RAD17	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
4	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
5	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
7	chr5:68538400-68563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
9	chr5:68546200-68562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:68546400-68569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:68546600-68566600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:68548600-68566600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:68548800-68562000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:68549400-68565000	Weak transcription	Small Intestine	intestine
16	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:68549800-68567800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:68550600-68562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:68550600-68577000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:68550800-68566600	Strong transcription	HSMM	muscle
23	chr5:68550800-68568400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:68550800-68569600	Strong transcription	Primary B cells from cord blood	blood
25	chr5:68551200-68562000	Strong transcription	Placenta	Placenta
26	chr5:68551200-68567000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:68551400-68567400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:68551600-68562000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr5:68551600-68562000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr5:68551600-68568000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:68551800-68562600	Strong transcription	Dnd41	blood
32	chr5:68551800-68568000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:68551800-68570200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:68552000-68562200	Strong transcription	Liver	Liver
35	chr5:68552000-68566200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:68552000-68566400	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:68552000-68567000	Strong transcription	Primary T cells from cord blood	blood
38	chr5:68552000-68581200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:68552200-68580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:68552200-68588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:68552400-68566600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:68553000-68581400	Weak transcription	Psoas Muscle	Psoas
43	chr5:68553800-68563800	Weak transcription	Esophagus	oesophagus
44	chr5:68553800-68575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:68553800-68587800	Weak transcription	Colonic Mucosa	Colon
46	chr5:68554000-68566600	Strong transcription	Fetal Stomach	stomach
47	chr5:68554000-68577600	Weak transcription	Fetal Heart	heart
48	chr5:68554200-68604400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:68554600-68562200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:68554600-68566200	Strong transcription	Fetal Intestine Small	intestine

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