Variant report

Variant	rs16960554
Chromosome Location	chr17:19869798-19869799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19868472..19876217-chr17:19879433..19882919,9	K562	blood:
2	chr17:19867234..19871590-chr17:19877670..19882500,6	MCF-7	breast:
3	chr17:19866196..19868366-chr17:19868969..19871678,2	K562	blood:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10459970	0.87[EUR][1000 genomes]
rs16942325	0.84[CEU][hapmap]
rs2008758	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385960	0.87[EUR][1000 genomes]
rs56153261	0.87[EUR][1000 genomes]
rs57040439	0.87[EUR][1000 genomes]
rs57673732	0.87[EUR][1000 genomes]
rs58313980	0.87[EUR][1000 genomes]
rs59890010	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749865	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73296067	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980762	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73984559	0.87[EUR][1000 genomes]
rs8073875	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16960554	AKAP10	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
2	chr17:19846800-19875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:19850600-19879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:19850600-19880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:19850600-19880200	Weak transcription	Aorta	Aorta
6	chr17:19851600-19871600	Weak transcription	Colonic Mucosa	Colon
7	chr17:19852000-19871000	Weak transcription	Small Intestine	intestine
8	chr17:19852200-19879400	Weak transcription	Esophagus	oesophagus
9	chr17:19852200-19879600	Weak transcription	Right Ventricle	heart
10	chr17:19852200-19880000	Weak transcription	Psoas Muscle	Psoas
11	chr17:19852800-19869800	Weak transcription	Fetal Heart	heart
12	chr17:19857200-19875000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr17:19857400-19873800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:19857400-19880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:19857600-19874000	Strong transcription	Dnd41	blood
16	chr17:19857600-19874400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:19857600-19875200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:19857600-19880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:19858400-19873600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr17:19858600-19874400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:19858600-19875800	Strong transcription	Primary B cells from cord blood	blood
22	chr17:19859000-19877200	Strong transcription	Fetal Thymus	thymus
23	chr17:19859200-19870800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:19859200-19874400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:19859200-19875600	Strong transcription	Placenta	Placenta
26	chr17:19859200-19878600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:19859600-19876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:19859800-19879400	Weak transcription	Brain Angular Gyrus	brain
29	chr17:19861000-19875600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr17:19861600-19869800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:19861800-19870800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:19861800-19870800	Weak transcription	Pancreas	Pancrea
33	chr17:19861800-19873000	Weak transcription	Gastric	stomach
34	chr17:19861800-19878600	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:19861800-19880000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:19862000-19871400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:19862000-19876800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:19862000-19879000	Weak transcription	Brain Substantia Nigra	brain
39	chr17:19862000-19879200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:19862000-19880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr17:19862000-19880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:19862200-19880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr17:19862400-19875400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:19862600-19875600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:19862800-19870600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:19863000-19872600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:19863400-19877200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:19863400-19879600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:19863600-19879800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:19864000-19873800	Weak transcription	Brain Germinal Matrix	brain

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