Variant report

Variant	rs9898591
Chromosome Location	chr17:19728077-19728078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16960503	0.86[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1986269	0.95[ASN][1000 genomes]
rs205111	0.87[ASW][hapmap]
rs28491526	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28632080	1.00[AMR][1000 genomes]
rs57619378	0.95[ASN][1000 genomes]
rs59144438	0.81[ASN][1000 genomes]
rs59910766	0.95[ASN][1000 genomes]
rs7216958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066134	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8068565	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs9890667	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9891047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9893138	1.00[AMR][1000 genomes]
rs9894723	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899365	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9904275	0.81[ASN][1000 genomes]
rs9905570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9906263	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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
rs9898591	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
3	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
4	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
5	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:19701000-19743200	Weak transcription	Gastric	stomach
8	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
10	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
12	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
13	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
14	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
16	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:19705200-19733200	Weak transcription	HMEC	breast
19	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:19710000-19729000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:19712400-19730000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:19712600-19742400	Weak transcription	Fetal Kidney	kidney
24	chr17:19712600-19748400	Weak transcription	Fetal Brain Male	brain
25	chr17:19715400-19729200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:19716400-19737000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:19717200-19736000	Strong transcription	Adipose Nuclei	Adipose
28	chr17:19717800-19728600	Strong transcription	Primary T cells from cord blood	blood
29	chr17:19717800-19729000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:19717800-19729000	Strong transcription	Fetal Intestine Large	intestine
31	chr17:19718000-19729000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:19718600-19729000	Strong transcription	Fetal Brain Female	brain
33	chr17:19719600-19728800	Strong transcription	Brain Anterior Caudate	brain
34	chr17:19719600-19729800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:19720800-19729200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr17:19721200-19729000	Strong transcription	Fetal Muscle Leg	muscle
37	chr17:19721200-19729400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:19721200-19729400	Strong transcription	Fetal Stomach	stomach
39	chr17:19722800-19730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:19723800-19728800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:19724200-19749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:19724800-19729000	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr17:19725200-19729000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:19725400-19728600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:19725400-19728600	Strong transcription	Placenta	Placenta
46	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:19725600-19729000	Strong transcription	Left Ventricle	heart
48	chr17:19725800-19729400	Strong transcription	Lung	lung
49	chr17:19725800-19731000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:19726000-19729000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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