Variant report

Variant	rs73984559
Chromosome Location	chr17:19946516-19946517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19945642..19947610-chr17:19953431..19955992,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10459969	1.00[ASN][1000 genomes]
rs10459970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960554	0.87[EUR][1000 genomes]
rs16960644	0.82[AMR][1000 genomes]
rs16960660	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2008758	0.86[EUR][1000 genomes]
rs2385960	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567541	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28622601	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34291370	0.85[ASN][1000 genomes]
rs56142708	0.85[ASN][1000 genomes]
rs57040439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57673732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58313980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59890010	0.89[EUR][1000 genomes]
rs61749865	0.83[EUR][1000 genomes]
rs7218708	0.85[ASN][1000 genomes]
rs72843506	1.00[ASN][1000 genomes]
rs73296067	0.89[EUR][1000 genomes]
rs73980762	0.89[EUR][1000 genomes]
rs8073875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916729	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73984559	AKAP10	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19923400-19956600	Weak transcription	A549	lung
2	chr17:19926400-19947000	Weak transcription	Brain Angular Gyrus	brain
3	chr17:19932000-19956800	Weak transcription	Ovary	ovary
4	chr17:19942800-19950400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:19943800-19965800	Weak transcription	Aorta	Aorta
6	chr17:19944000-19947200	Weak transcription	Brain Substantia Nigra	brain
7	chr17:19944000-19950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:19944400-19946600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr17:19945400-19947000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:19945600-19946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:19945600-19947000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:19945800-19956000	Weak transcription	K562	blood
13	chr17:19946000-19947000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr17:19946000-19947000	Enhancers	Fetal Thymus	thymus
15	chr17:19946000-19947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:19946000-19947800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:19946200-19946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:19946200-19947000	Enhancers	Primary hematopoietic stem cells	blood
19	chr17:19946400-19946600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:19946400-19946600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:19946400-19946800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:19946400-19947000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr17:19946400-19947000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr17:19946400-19947200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:19946400-19947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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