Variant report

Variant	rs11656704
Chromosome Location	chr17:19692809-19692810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17794370	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[ASN][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	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	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11656704	AKAP10	cis	Whole Blood	GTEx
rs11656704	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
2	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
3	chr17:19673800-19769800	Weak transcription	NH-A	brain
4	chr17:19674000-19699200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:19674000-19699200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:19675200-19693000	Weak transcription	Small Intestine	intestine
7	chr17:19675200-19695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:19675600-19693600	Strong transcription	Fetal Muscle Leg	muscle
9	chr17:19676800-19697000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
11	chr17:19677400-19696200	Weak transcription	Fetal Heart	heart
12	chr17:19677600-19696200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:19678000-19698400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:19678200-19698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:19678800-19698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:19678800-19699200	Weak transcription	Colonic Mucosa	Colon
19	chr17:19679200-19696400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:19679200-19699400	Strong transcription	Fetal Stomach	stomach
21	chr17:19679600-19700000	Weak transcription	HMEC	breast
22	chr17:19679600-19701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:19680000-19697200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:19680000-19726800	Weak transcription	NHLF	lung
25	chr17:19680600-19696600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:19680600-19698800	Weak transcription	HUVEC	blood vessel
27	chr17:19682200-19699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:19682400-19699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:19684000-19696800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:19684600-19693800	Weak transcription	Fetal Brain Male	brain
31	chr17:19685200-19695600	Weak transcription	NHDF-Ad	bronchial
32	chr17:19686000-19696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr17:19689000-19698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:19690200-19698800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
36	chr17:19690400-19693600	Strong transcription	Lung	lung
37	chr17:19690600-19693000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:19690600-19693000	Strong transcription	Brain Germinal Matrix	brain
39	chr17:19690600-19694800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:19690600-19695600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:19690600-19696600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:19690600-19699200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:19690800-19693000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:19690800-19696800	Strong transcription	Primary T cells from cord blood	blood
45	chr17:19690800-19697200	Strong transcription	Fetal Brain Female	brain
46	chr17:19690800-19699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:19691000-19693000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:19691000-19693000	Strong transcription	Fetal Intestine Large	intestine
50	chr17:19691000-19695000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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