Variant report

Variant	rs2034879
Chromosome Location	chr15:72429989-72429990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72418217..72420819-chr15:72429200..72430983,2	K562	blood:
2	chr15:72409341..72411257-chr15:72428846..72431471,2	K562	blood:

Variant related genes	Relation type
ENSG00000066933	Chromatin interaction
ENSG00000166192	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1000281	0.94[MEX][hapmap];0.82[TSI][hapmap]
rs1035744	0.84[MEX][hapmap];0.85[TSI][hapmap]
rs1037680	0.80[TSI][hapmap]
rs10851850	0.94[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes]
rs11072349	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11072350	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11630170	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11630611	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11631650	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11634608	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[AMR][1000 genomes]
rs11637611	0.94[MEX][hapmap];0.82[TSI][hapmap]
rs11639282	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13858	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481860	0.84[ASN][1000 genomes]
rs1481861	0.83[ASN][1000 genomes]
rs1481862	0.80[AMR][1000 genomes]
rs2052713	0.89[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs2278987	0.83[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2415134	0.89[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes]
rs2856929	0.80[TSI][hapmap]
rs2899775	0.83[AMR][1000 genomes]
rs2899776	0.82[AMR][1000 genomes]
rs2912231	0.80[TSI][hapmap]
rs2929508	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs2929517	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2929518	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2929527	0.85[AMR][1000 genomes]
rs2929528	0.88[ASN][1000 genomes]
rs2929532	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957361	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957365	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2957368	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2957373	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2957375	0.82[ASN][1000 genomes]
rs2957724	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs2957725	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs2957734	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs2957735	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs2957736	0.80[AMR][1000 genomes]
rs2957737	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs2957740	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2957742	0.86[AMR][1000 genomes]
rs2957743	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2957745	0.85[AMR][1000 genomes]
rs2957750	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3759820	0.82[AMR][1000 genomes]
rs3759900	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759902	0.80[AMR][1000 genomes]
rs4454922	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4506844	0.84[CEU][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes]
rs4777485	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777489	0.89[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs55679065	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59975112	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6494990	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6494992	0.84[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6494997	0.94[MEX][hapmap];0.82[TSI][hapmap]
rs7162299	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7164780	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170456	0.95[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7172158	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7175197	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7175792	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7182776	0.80[TSI][hapmap];0.83[AMR][1000 genomes]
rs7183055	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8023788	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8025939	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8027164	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8028115	0.86[CHD][hapmap];0.81[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8030815	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8032222	0.88[AMR][1000 genomes]
rs8037381	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8040216	0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs8040828	0.82[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs8182011	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8192362	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
6	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2034879	AAGAB	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72411400-72432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:72411600-72433800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:72412200-72431800	Weak transcription	Psoas Muscle	Psoas
4	chr15:72421000-72431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:72421800-72433000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:72423800-72432000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr15:72424800-72432000	Weak transcription	GM12878-XiMat	blood
8	chr15:72426400-72432000	Weak transcription	Primary T cells from cord blood	blood
9	chr15:72426800-72436200	Weak transcription	Aorta	Aorta
10	chr15:72427400-72433800	Weak transcription	HepG2	liver
11	chr15:72428200-72430000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:72428400-72431600	Weak transcription	Left Ventricle	heart
13	chr15:72428400-72431800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:72428400-72433800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:72428400-72436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:72428400-72440400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:72428400-72447400	Weak transcription	Pancreas	Pancrea
18	chr15:72428600-72432000	Weak transcription	Brain Germinal Matrix	brain
19	chr15:72428800-72433200	Weak transcription	Fetal Kidney	kidney
20	chr15:72428800-72433200	Weak transcription	Fetal Stomach	stomach
21	chr15:72428800-72433800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:72428800-72433800	Weak transcription	Small Intestine	intestine
23	chr15:72428800-72433800	Weak transcription	Stomach Mucosa	stomach
24	chr15:72429200-72433800	Weak transcription	A549	lung
25	chr15:72429800-72431600	Weak transcription	Ovary	ovary
26	chr15:72429800-72433800	Weak transcription	Fetal Lung	lung
27	chr15:72429800-72445800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links