Variant report

Variant	rs7213816
Chromosome Location	chr17:20019899-20019900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19895835..19896749-chr17:20019766..20020654,3	MCF-7	breast:
2	chr17:19895701..19896691-chr17:20019722..20020794,7	K562	blood:
3	chr17:19688891..19689853-chr17:20019794..20020671,3	MCF-7	breast:
4	chr17:19895744..19896716-chr17:20019670..20020642,8	MCF-7	breast:
5	chr17:19913010..19914100-chr17:20019760..20020576,4	MCF-7	breast:
6	chr17:19912214..19912919-chr17:20019697..20020371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11868429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12051844	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12051865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16942325	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16959946	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs16960700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16960715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960735	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16964352	1.00[CHB][hapmap]
rs1971043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1971044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3764436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5025290	1.00[CHB][hapmap]
rs57110692	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61141789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61660810	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6587060	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6587218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6587221	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7207458	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7211948	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7213349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215097	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215432	1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218859	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73299658	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73301548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73309111	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73981849	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8076627	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8077051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077852	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896190	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9897161	0.98[ASN][1000 genomes]
rs9897168	0.98[ASN][1000 genomes]
rs9899514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9901102	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9901484	0.83[ASN][1000 genomes]
rs9902683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9905976	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9908032	0.87[ASN][1000 genomes]
rs9908418	1.00[CHB][hapmap]
rs9911605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913018	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9913394	0.89[EUR][1000 genomes]
rs9914219	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9941362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9941376	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7213816	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:20007400-20024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:20007600-20020200	Weak transcription	Brain Angular Gyrus	brain
5	chr17:20007600-20024000	Weak transcription	Brain Substantia Nigra	brain
6	chr17:20007800-20020200	Weak transcription	Brain Anterior Caudate	brain
7	chr17:20007800-20024000	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:20009200-20024200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:20014400-20020000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:20014400-20024200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:20014400-20024400	Weak transcription	Ovary	ovary
12	chr17:20014400-20024800	Weak transcription	Aorta	Aorta
13	chr17:20014400-20025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:20014600-20028800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:20016000-20028800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:20016400-20024400	Weak transcription	Adipose Nuclei	Adipose
17	chr17:20016400-20028600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:20017400-20026200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:20018200-20020000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:20018200-20025200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:20018400-20025000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:20019200-20021600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:20019800-20020600	Enhancers	Brain Cingulate Gyrus	brain
24	chr17:20019800-20020600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:20019800-20020600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links