Variant report

Variant	rs7818445
Chromosome Location	chr8:48725136-48725137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10088698	0.92[JPT][hapmap]
rs10091017	0.88[ASW][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap]
rs10092880	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs10097508	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10097783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10106778	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs10109158	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958274	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs12334811	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs1487438	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs1551655	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs1894311	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs28485144	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28795698	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28809491	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3614	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4521758	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4873266	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs4873728	0.87[EUR][1000 genomes]
rs4873737	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873770	1.00[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs6993483	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6995756	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014544	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016660	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017622	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72646396	0.87[EUR][1000 genomes]
rs72646401	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72647906	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs729228	1.00[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs7813617	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7828380	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830350	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830633	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830743	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7831196	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832898	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7838910	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839161	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7839407	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841661	1.00[CEU][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs8178016	1.00[CEU][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs8178079	0.88[ASN][1000 genomes]
rs8178095	1.00[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs8178158	0.85[EUR][1000 genomes]
rs8178169	0.82[EUR][1000 genomes]
rs8178238	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs8178255	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8178258	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9657054	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs9918758	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7818445	TPM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:48684400-48861600	Strong transcription	Dnd41	blood
7	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
9	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
12	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:48701400-48729400	Weak transcription	Small Intestine	intestine
14	chr8:48703000-48733600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
16	chr8:48703600-48727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:48704200-48737400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:48704600-48726200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:48710600-48726800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:48711200-48727400	Weak transcription	Psoas Muscle	Psoas
22	chr8:48711200-48741400	Weak transcription	Fetal Heart	heart
23	chr8:48711400-48740200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:48712400-48728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:48712400-48729800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:48712800-48728000	Weak transcription	Fetal Kidney	kidney
27	chr8:48715000-48728800	Weak transcription	Brain Substantia Nigra	brain
28	chr8:48715000-48729600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:48715000-48734600	Weak transcription	Fetal Brain Male	brain
30	chr8:48716000-48727600	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:48716200-48728400	Weak transcription	NHLF	lung
32	chr8:48716200-48734200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:48716400-48733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:48716400-48734000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:48716600-48733800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:48718600-48729600	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:48718800-48726400	Weak transcription	Fetal Lung	lung
38	chr8:48718800-48728600	Weak transcription	Right Ventricle	heart
39	chr8:48718800-48729600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:48718800-48733400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:48719000-48726000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:48719000-48726400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:48719000-48728000	Weak transcription	Fetal Brain Female	brain
44	chr8:48719000-48728400	Weak transcription	Colonic Mucosa	Colon
45	chr8:48719000-48728800	Weak transcription	Brain Anterior Caudate	brain
46	chr8:48719000-48729400	Weak transcription	Aorta	Aorta
47	chr8:48719000-48729400	Weak transcription	Gastric	stomach
48	chr8:48719200-48729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:48719200-48729400	Weak transcription	Esophagus	oesophagus
50	chr8:48719200-48731400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links