Variant report

Variant	rs8033335
Chromosome Location	chr15:34392808-34392809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr15:34392506..34394195-chr15:34653164..34655913,2	MCF-7	breast:
3	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
4	chr15:34391496..34393371-chr15:34874535..34876931,2	K562	blood:
5	chr15:34392784..34394847-chr15:34629052..34631553,2	K562	blood:
6	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:

Variant related genes	Relation type
ENSG00000134152	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000128463	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10152308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10152504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851938	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12438470	0.83[ASN][1000 genomes]
rs12441615	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898455	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436922	0.83[CEU][hapmap]
rs16958595	0.83[CHB][hapmap]
rs16958780	0.89[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17817764	0.84[CEU][hapmap]
rs2339373	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705338	0.84[CEU][hapmap]
rs34196590	0.83[ASN][1000 genomes]
rs3764237	0.87[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764238	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs499167	0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs554303	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs579975	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs60270549	0.82[ASN][1000 genomes]
rs62014675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62014728	0.80[ASN][1000 genomes]
rs62014729	0.80[ASN][1000 genomes]
rs7175933	0.84[CEU][hapmap]
rs7178266	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8029344	0.92[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs8035849	0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs8037065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8182015	0.80[ASN][1000 genomes]
rs9972453	0.83[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	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8033335	AVEN	Cis_1M	lymphoblastoid	RTeQTL
rs8033335	AVEN	cis	lymphoblastoid	seeQTL
rs8033335	CHRM5	cis	parietal	SCAN
rs8033335	PGBD4	cis	parietal	SCAN
rs8033335	CHRM5	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
2	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
3	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:34378800-34393000	Weak transcription	Lung	lung
6	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
7	chr15:34380200-34393000	Weak transcription	Ovary	ovary
8	chr15:34380200-34393400	Weak transcription	Gastric	stomach
9	chr15:34381200-34393400	Weak transcription	Pancreas	Pancrea
10	chr15:34388400-34393200	Weak transcription	Placenta	Placenta
11	chr15:34388800-34393000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:34390600-34393000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:34391600-34393000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:34391600-34393000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:34391600-34393000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr15:34391600-34393200	Enhancers	Small Intestine	intestine
17	chr15:34391600-34393200	Flanking Active TSS	Dnd41	blood
18	chr15:34391800-34394800	Active TSS	GM12878-XiMat	blood
19	chr15:34392000-34393000	Weak transcription	Fetal Intestine Large	intestine
20	chr15:34392000-34393000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:34392000-34393000	Weak transcription	Right Ventricle	heart
22	chr15:34392200-34393000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:34392200-34393000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:34392200-34393000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr15:34392200-34393000	Flanking Active TSS	HepG2	liver
26	chr15:34392200-34393200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:34392200-34393200	Flanking Active TSS	Hela-S3	cervix
28	chr15:34392200-34393600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:34392200-34394600	Active TSS	Rectal Smooth Muscle	rectum
30	chr15:34392400-34393000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:34392400-34393000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:34392400-34393000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:34392400-34393000	Enhancers	Stomach Mucosa	stomach
34	chr15:34392400-34393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:34392400-34393200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:34392400-34393200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr15:34392400-34393200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr15:34392400-34393200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:34392400-34393200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:34392400-34393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:34392400-34393600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr15:34392400-34394800	Active TSS	K562	blood
43	chr15:34392400-34394800	Active TSS	NHLF	lung
44	chr15:34392400-34395400	Active TSS	Psoas Muscle	Psoas
45	chr15:34392600-34393000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:34392600-34393000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr15:34392600-34393000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:34392600-34393000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr15:34392600-34393000	Enhancers	Fetal Stomach	stomach
50	chr15:34392600-34393000	Weak transcription	Fetal Thymus	thymus

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