Variant report

Variant	rs7211948
Chromosome Location	chr17:20081257-20081258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20080496..20083311-chr17:20083511..20085814,2	MCF-7	breast:
2	chr17:20071385..20073993-chr17:20080012..20082353,2	MCF-7	breast:
3	chr17:20057951..20061755-chr17:20075070..20081270,10	MCF-7	breast:
4	chr17:20080906..20083704-chr17:20086823..20088345,2	MCF-7	breast:
5	chr17:20080334..20082016-chr17:20102428..20104693,2	MCF-7	breast:
6	chr17:20076969..20079576-chr17:20080631..20082312,2	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:45)

rs_ID	r²[population]
rs11868429	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12051550	0.86[ASN][1000 genomes]
rs12051844	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12051865	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960700	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16960715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960717	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960730	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16960735	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1971043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1971044	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3751979	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57110692	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61141789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61660810	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587060	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587061	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587218	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587221	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7213349	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7213816	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7215097	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7215432	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7218859	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73299658	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73301548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077051	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8077852	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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]
rs9905976	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9908032	0.82[ASN][1000 genomes]
rs9909156	0.86[ASN][1000 genomes]
rs9911605	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913018	0.86[ASN][1000 genomes]
rs9913394	0.89[EUR][1000 genomes]
rs9914219	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9941362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1057870	chr17:20079146-20121848	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7211948	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20060800-20092200	Weak transcription	Fetal Intestine Small	intestine
2	chr17:20062000-20090400	Weak transcription	Aorta	Aorta
3	chr17:20075800-20090800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:20076000-20087400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr17:20077000-20087600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr17:20078000-20081400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:20078000-20082200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:20078000-20089800	Weak transcription	Spleen	Spleen
9	chr17:20078400-20085800	Weak transcription	A549	lung
10	chr17:20078600-20082400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:20078600-20082400	Weak transcription	Ovary	ovary
12	chr17:20078600-20083800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:20078600-20090400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:20079200-20082000	Enhancers	Hela-S3	cervix
15	chr17:20079200-20082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:20079200-20082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:20079200-20088200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:20079200-20088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:20080200-20081400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:20080400-20081400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:20080400-20081600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:20080400-20081600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:20080400-20082000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:20080400-20082200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:20080400-20082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:20080400-20083400	Weak transcription	Brain Germinal Matrix	brain
27	chr17:20080400-20086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:20080400-20088200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:20080400-20092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:20080400-20092400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:20080600-20081600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr17:20080600-20081600	Weak transcription	Brain Hippocampus Middle	brain
33	chr17:20080600-20081600	Weak transcription	Brain Substantia Nigra	brain
34	chr17:20080800-20082000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:20080800-20082400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:20080800-20087600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:20081000-20081400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:20081000-20081400	Weak transcription	Brain Anterior Caudate	brain
39	chr17:20081000-20086200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:20081200-20082000	Enhancers	Brain Angular Gyrus	brain

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