Variant report

Variant	rs1436767
Chromosome Location	chr8:117665191-117665192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117663796..117666790-chr8:117671372..117673169,2	MCF-7	breast:
2	chr19:54975628..54977195-chr8:117663781..117666723,2	MCF-7	breast:
3	chr8:117663691..117665857-chr8:117668562..117670505,2	K562	blood:
4	chr8:117662547..117665506-chr8:117665658..117667921,2	K562	blood:
5	chr8:117662870..117665377-chr8:117679610..117681348,2	K562	blood:
6	chr8:117651141..117652984-chr8:117663103..117665208,2	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10089815	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10094452	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104144	0.82[ASN][1000 genomes]
rs10109369	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10111411	0.81[EUR][1000 genomes]
rs10283122	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10283129	0.91[CHD][hapmap];0.92[JPT][hapmap]
rs10505284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808483	0.82[EUR][1000 genomes]
rs10808485	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11775890	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs11776214	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11781754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12155774	0.81[EUR][1000 genomes]
rs12375316	0.84[AFR][1000 genomes]
rs12546186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548402	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12675093	0.91[CHD][hapmap];0.92[JPT][hapmap]
rs13258789	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13264928	0.84[AFR][1000 genomes]
rs13266314	0.86[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13268448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16888615	0.90[YRI][hapmap]
rs16888619	0.90[YRI][hapmap]
rs16888625	0.83[LWK][hapmap];0.90[YRI][hapmap]
rs16888705	0.83[LWK][hapmap]
rs16888709	0.83[LWK][hapmap]
rs17663673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17664079	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs2121339	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34007155	0.80[EUR][1000 genomes]
rs41339048	0.83[LWK][hapmap]
rs4145242	0.85[ASN][1000 genomes]
rs4372028	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4449824	0.86[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes]
rs4464999	0.92[JPT][hapmap]
rs4532623	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4876671	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4876672	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4876675	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876679	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs6469659	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs6469660	0.91[CHD][hapmap];0.92[JPT][hapmap]
rs6981932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983034	0.90[AMR][1000 genomes]
rs6990665	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6992589	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs7013007	0.81[ASN][1000 genomes]
rs7014156	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7814084	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7823870	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1436767	MRPL13	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
3	chr8:117647200-117677800	Weak transcription	Gastric	stomach
4	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
5	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
8	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
11	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:117654000-117665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
15	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:117655000-117668200	Strong transcription	Dnd41	blood
18	chr8:117655000-117670400	Weak transcription	Stomach Mucosa	stomach
19	chr8:117655400-117670400	Weak transcription	Right Ventricle	heart
20	chr8:117655800-117666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:117656000-117667800	Weak transcription	Colonic Mucosa	Colon
22	chr8:117656800-117667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:117656800-117670000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:117657200-117670200	Weak transcription	Fetal Intestine Small	intestine
25	chr8:117657800-117672200	Weak transcription	Lung	lung
26	chr8:117658200-117667600	Weak transcription	Brain Germinal Matrix	brain
27	chr8:117658800-117665600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:117658800-117666600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:117658800-117669200	Weak transcription	Small Intestine	intestine
30	chr8:117658800-117669600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:117658800-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:117659000-117666600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:117659000-117666800	Weak transcription	Left Ventricle	heart
34	chr8:117659000-117669000	Weak transcription	Aorta	Aorta
35	chr8:117659000-117669400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:117659000-117669400	Weak transcription	Fetal Stomach	stomach
37	chr8:117659000-117669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:117659000-117670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:117659000-117670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:117659000-117670400	Weak transcription	Fetal Intestine Large	intestine
41	chr8:117659000-117670400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:117659000-117670400	Weak transcription	Ovary	ovary
43	chr8:117659000-117670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:117659000-117670600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:117659000-117677200	Weak transcription	Thymus	Thymus
46	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
47	chr8:117659200-117669000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:117659200-117669600	Weak transcription	A549	lung
49	chr8:117659200-117670600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:117659200-117671000	Weak transcription	Placenta	Placenta

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