Variant report

Variant	rs12674671
Chromosome Location	chr8:54901348-54901349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54895383..54899266-chr8:54899751..54903552,4	K562	blood:
2	chr8:54900563..54902086-chr8:54917841..54919775,2	K562	blood:
3	chr8:54897152..54899087-chr8:54900237..54902798,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10101097	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10113246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs10504161	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs1050523	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958396	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10958397	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11783652	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11986577	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11991952	0.87[CHB][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap]
rs11993367	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993959	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs11994629	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.85[ASN][1000 genomes]
rs11996666	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997954	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056381	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114043	0.81[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs12676510	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12677696	0.92[EUR][1000 genomes]
rs12679542	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs16919699	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs16919782	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs16919784	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs1828835	0.85[ASN][1000 genomes]
rs2037068	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271567	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2292590	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2375697	0.98[ASN][1000 genomes]
rs28494618	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440612	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506187	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515510	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737457	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737479	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.86[ASN][1000 genomes]
rs4737485	0.82[ASN][1000 genomes]
rs4737486	0.85[ASN][1000 genomes]
rs4737487	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs4737488	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4738519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4738544	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738556	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738564	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4738586	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57872947	0.91[ASN][1000 genomes]
rs58387069	0.85[ASN][1000 genomes]
rs58419852	0.85[ASN][1000 genomes]
rs58929175	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58948369	0.84[ASN][1000 genomes]
rs59882028	0.98[ASN][1000 genomes]
rs60183530	0.85[ASN][1000 genomes]
rs61271559	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61319412	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473900	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473909	0.83[ASN][1000 genomes]
rs6473911	0.85[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6473914	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs6473915	0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs6983694	0.85[ASN][1000 genomes]
rs7009781	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011379	0.84[ASN][1000 genomes]
rs7011430	0.80[ASN][1000 genomes]
rs7012031	0.93[ASW][hapmap];0.87[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]
rs72614663	0.99[ASN][1000 genomes]
rs72614664	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614665	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614666	0.85[ASN][1000 genomes]
rs72614667	0.85[ASN][1000 genomes]
rs72614668	0.83[ASN][1000 genomes]
rs7463083	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs7463261	0.98[ASN][1000 genomes]
rs7464767	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815216	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842911	0.92[CEU][hapmap];0.93[CHB][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap]
rs9298497	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.97[ASN][1000 genomes]
rs952194	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs9643823	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643824	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12674671	MRPL15	Cis_1M	lymphoblastoid	RTeQTL
rs12674671	TCEA1	cis	lymphoblastoid	seeQTL
rs12674671	MRPL15	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
3	chr8:54880400-54906600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:54881400-54903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:54887800-54901600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:54888000-54903800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:54889000-54910400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:54890000-54904000	Strong transcription	Liver	Liver
17	chr8:54890200-54903800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
20	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:54890800-54906200	Strong transcription	Adipose Nuclei	Adipose
22	chr8:54891000-54906400	Strong transcription	Fetal Intestine Large	intestine
23	chr8:54891000-54911600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:54892000-54911600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
26	chr8:54892400-54903800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:54893000-54907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:54893200-54911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:54893600-54905600	Strong transcription	Brain Germinal Matrix	brain
30	chr8:54894200-54910400	Strong transcription	Fetal Intestine Small	intestine
31	chr8:54894800-54903800	Strong transcription	Primary T cells from cord blood	blood
32	chr8:54895200-54903600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:54895200-54903800	Strong transcription	Placenta	Placenta
34	chr8:54895200-54912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:54895200-54913800	Strong transcription	Dnd41	blood
36	chr8:54895400-54901400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:54895400-54902000	Strong transcription	HMEC	breast
38	chr8:54895400-54903800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:54895400-54905600	Strong transcription	GM12878-XiMat	blood
40	chr8:54895600-54904000	Strong transcription	NHEK	skin
41	chr8:54895600-54906000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:54895800-54908800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:54896000-54901400	Strong transcription	Gastric	stomach
44	chr8:54896000-54901400	Strong transcription	Lung	lung
45	chr8:54896000-54903400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:54896000-54909800	Strong transcription	Fetal Stomach	stomach
47	chr8:54896600-54904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:54897000-54901400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:54897000-54906800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr8:54897400-54901600	Strong transcription	K562	blood

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