Variant report

Variant	rs713113
Chromosome Location	chr8:95877787-95877788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:95877708-95878015	HepG2	liver:	n/a	chr8:95877838-95877853
2	MAFF	chr8:95877716-95877991	K562	blood:	n/a	chr8:95877837-95877855
3	MAFK	chr8:95877659-95877959	HepG2	liver:	n/a	chr8:95877838-95877853
4	MAFF	chr8:95877686-95877961	HepG2	liver:	n/a	chr8:95877837-95877855

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
2	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000175305	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10096090	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10100651	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10112232	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs10441538	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129152	0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs11996455	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155666	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12545815	0.83[ASN][1000 genomes]
rs12548874	0.81[ASN][1000 genomes]
rs12550765	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12679044	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13271375	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13271644	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779789	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073755	0.81[ASN][1000 genomes]
rs4075835	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4500055	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734285	0.93[ASN][1000 genomes]
rs4734291	0.83[GIH][hapmap]
rs477653	0.84[CHB][hapmap]
rs550418	0.86[CHB][hapmap]
rs550564	0.86[CHB][hapmap]
rs6471497	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6471504	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs683832	0.86[CHB][hapmap]
rs6991067	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004862	0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817862	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845219	0.86[GIH][hapmap];0.81[MEX][hapmap]
rs896854	0.81[GIH][hapmap]
rs9643349	0.82[ASN][1000 genomes]
rs9650133	0.88[EUR][1000 genomes];0.88[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs713113	LAPTM4B	cis	parietal	SCAN
rs713113	PLEKHF2	cis	parietal	SCAN
rs713113	TP53INP1	cis	parietal	SCAN
rs713113	TP53INP1	cis	multi-tissue	Pritchard
rs713113	RBM12B	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
7	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
8	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
9	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
11	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
12	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
14	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
16	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
18	chr8:95871400-95889600	Weak transcription	NHLF	lung
19	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
20	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:95872400-95878600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
25	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
27	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
28	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95874200-95878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:95874200-95879200	Strong transcription	Osteobl	bone
31	chr8:95874200-95883400	Strong transcription	Liver	Liver
32	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:95874400-95878200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:95874400-95878600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:95874400-95879400	Strong transcription	Dnd41	blood
42	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:95874600-95879800	Strong transcription	K562	blood
47	chr8:95874600-95884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:95874600-95886000	Strong transcription	Left Ventricle	heart
49	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:95874600-95896200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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