Variant report

Variant	rs8074791
Chromosome Location	chr17:19966694-19966695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11204422	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11867585	0.90[JPT][hapmap]
rs11867646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11867652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868146	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11869931	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11870381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870673	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12451216	0.86[ASN][1000 genomes]
rs12451841	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12453332	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12942179	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12947713	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12949710	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1468953	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1638526	0.90[JPT][hapmap]
rs17685923	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17686798	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17759959	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2072337	0.90[JPT][hapmap]
rs28424266	0.90[JPT][hapmap]
rs28831144	0.85[EUR][1000 genomes]
rs34370440	0.86[ASN][1000 genomes]
rs34756775	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35041742	0.80[ASN][1000 genomes]
rs35124809	0.88[ASN][1000 genomes]
rs35156798	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35191778	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35244101	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35493088	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35770292	0.85[ASN][1000 genomes]
rs36051592	0.82[ASN][1000 genomes]
rs3940274	0.83[ASN][1000 genomes]
rs4141185	0.90[JPT][hapmap]
rs4341795	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4346259	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4350625	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4471741	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4570919	0.90[JPT][hapmap]
rs4924808	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4925075	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925076	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925078	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4925082	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4925088	0.82[JPT][hapmap]
rs57146223	0.91[ASN][1000 genomes]
rs60496867	0.92[EUR][1000 genomes]
rs62067488	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6587207	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7207459	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7209653	0.90[JPT][hapmap]
rs7215803	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7219688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223984	1.00[EUR][1000 genomes]
rs7224875	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7225249	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs73981864	0.94[EUR][1000 genomes]
rs7503407	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8066705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068484	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8075343	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8080190	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8081817	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs888424	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs972966	0.83[ASN][1000 genomes]
rs9897653	0.90[JPT][hapmap]
rs9899251	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9901125	0.86[ASN][1000 genomes]
rs9901294	0.90[JPT][hapmap]
rs9915039	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9944451	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8074791	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19957000-19967000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr17:19963600-19967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:19963800-19967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:19963800-19967200	Weak transcription	K562	blood
5	chr17:19964200-19967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:19964400-19966800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:19965600-19967400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:19965800-19968000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:19965800-19969200	Enhancers	Ovary	ovary
10	chr17:19966000-19966800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:19966200-19966800	Enhancers	Osteobl	bone
12	chr17:19966200-19967400	Weak transcription	Aorta	Aorta
13	chr17:19966200-19968200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr17:19966200-19968600	Flanking Active TSS	A549	lung
15	chr17:19966200-19970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr17:19966400-19966800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:19966400-19966800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:19966400-19966800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr17:19966400-19966800	Enhancers	Hela-S3	cervix
20	chr17:19966400-19966800	Enhancers	HMEC	breast
21	chr17:19966400-19967000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:19966400-19967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:19966400-19967000	Enhancers	Brain Anterior Caudate	brain
24	chr17:19966400-19967000	Enhancers	Brain Hippocampus Middle	brain
25	chr17:19966400-19967000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr17:19966400-19967000	Enhancers	NHEK	skin
27	chr17:19966400-19967400	Enhancers	Adipose Nuclei	Adipose
28	chr17:19966400-19967600	Enhancers	Brain Substantia Nigra	brain
29	chr17:19966400-19968400	Enhancers	NH-A	brain
30	chr17:19966400-19968600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr17:19966400-19968600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr17:19966400-19968800	Enhancers	Brain Cingulate Gyrus	brain
33	chr17:19966400-19970000	Enhancers	Brain Angular Gyrus	brain
34	chr17:19966400-19970200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:19966400-19970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:19966600-19966800	Enhancers	NHLF	lung
37	chr17:19966600-19967200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:19966600-19967200	Enhancers	GM12878-XiMat	blood
39	chr17:19966600-19967200	Enhancers	HSMM	muscle
40	chr17:19966600-19967400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:19966600-19967400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr17:19966600-19967600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:19966600-19968200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:19966600-19968200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr17:19966600-19969600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:19966600-19970000	Enhancers	Colon Smooth Muscle	Colon

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