Variant report

Variant	rs73301548
Chromosome Location	chr17:20071381-20071382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20025057..20027504-chr17:20071007..20074000,2	MCF-7	breast:
2	chr17:20069675..20071454-chr17:20074392..20077634,3	MCF-7	breast:
3	chr17:20058253..20060124-chr17:20070865..20073313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11868429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12051550	0.90[ASN][1000 genomes]
rs12051844	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12051865	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16960715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16960717	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16960730	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16960735	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1971043	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1971044	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3751979	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3764436	0.81[ASN][1000 genomes]
rs57110692	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61141789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61660810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587060	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587221	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7207458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7211948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7213349	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7213816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7215097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7215432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7218859	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73299658	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73309111	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73981849	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8077051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8077852	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896190	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9899514	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9901102	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9901484	0.82[ASN][1000 genomes]
rs9902683	0.81[ASN][1000 genomes]
rs9905976	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908032	0.85[ASN][1000 genomes]
rs9909156	0.86[ASN][1000 genomes]
rs9911605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9913018	0.90[ASN][1000 genomes]
rs9913394	0.89[EUR][1000 genomes]
rs9914219	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9941362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9941376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73301548	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20060400-20079400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20060600-20075400	Weak transcription	A549	lung
3	chr17:20060600-20076400	Weak transcription	HSMM	muscle
4	chr17:20060800-20073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:20060800-20075000	Weak transcription	NHEK	skin
6	chr17:20060800-20092200	Weak transcription	Fetal Intestine Small	intestine
7	chr17:20061000-20075200	Weak transcription	NH-A	brain
8	chr17:20061400-20073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:20061400-20075200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:20061600-20080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:20061800-20075400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:20062000-20074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:20062000-20074800	Weak transcription	HMEC	breast
14	chr17:20062000-20090400	Weak transcription	Aorta	Aorta
15	chr17:20062200-20073400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:20062200-20075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:20062200-20075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:20063000-20073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:20063400-20071400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:20063400-20073400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:20063400-20075200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:20063400-20075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:20063600-20073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:20063600-20075200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:20063800-20071800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:20063800-20073000	Weak transcription	Spleen	Spleen
27	chr17:20063800-20073400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr17:20063800-20073400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:20063800-20074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:20063800-20075000	Weak transcription	Ovary	ovary
31	chr17:20065800-20071600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr17:20067800-20073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:20068200-20073400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:20068600-20073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:20068600-20075200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:20068800-20075200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:20069000-20073400	Weak transcription	Brain Anterior Caudate	brain
38	chr17:20069200-20073200	Weak transcription	Brain Substantia Nigra	brain
39	chr17:20069200-20075000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:20070200-20073200	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:20070800-20073400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr17:20071000-20071600	Enhancers	Hela-S3	cervix
43	chr17:20071000-20073000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:20071000-20073400	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links