Variant report

Variant	rs10793622
Chromosome Location	chr10:46157245-46157246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1073525	0.80[ASN][1000 genomes]
rs10751384	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10751385	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10751387	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11239562	0.88[ASN][1000 genomes]
rs4949004	0.80[ASN][1000 genomes]
rs7069223	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
3	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1050880	chr10:46091441-46160597	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv540588	chr10:46091441-46160597	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv895113	chr10:46134013-46167847	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3392795	chr10:46147995-46170942	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1045014	chr10:46148750-46814526	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv2754498	chr10:46148750-47136996	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv540591	chr10:46153700-47140487	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1044906	chr10:46153700-47148281	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv540592	chr10:46153700-47148281	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10793622	AGAP4	cis	Whole Blood	GTEx
rs10793622	AGAP4	cis	Artery Tibial	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:46108400-46167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:46120000-46157800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:46133800-46157800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:46137200-46167000	Weak transcription	Right Ventricle	heart
6	chr10:46137600-46167200	Weak transcription	Ovary	ovary
7	chr10:46142400-46158000	Weak transcription	A549	lung
8	chr10:46142800-46167000	Weak transcription	Esophagus	oesophagus
9	chr10:46142800-46167000	Weak transcription	Psoas Muscle	Psoas
10	chr10:46142800-46167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:46142800-46167200	Weak transcription	Aorta	Aorta
12	chr10:46143200-46167000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:46143200-46167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:46143200-46167400	Weak transcription	Left Ventricle	heart
15	chr10:46143400-46167000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:46143400-46167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:46143600-46167200	Weak transcription	Fetal Lung	lung
18	chr10:46143800-46157400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:46147200-46167000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:46148200-46158000	Weak transcription	Fetal Heart	heart
21	chr10:46149600-46160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:46149600-46167000	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:46149600-46167200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:46149800-46163800	Weak transcription	Brain Anterior Caudate	brain
25	chr10:46152000-46157600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr10:46152800-46167000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:46154000-46167000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:46154800-46158600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:46155000-46157800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr10:46155600-46157400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr10:46156200-46158200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:46156400-46157600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr10:46156400-46157800	Strong transcription	Thymus	Thymus
34	chr10:46156600-46157400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:46156800-46157400	Weak transcription	Adipose Nuclei	Adipose
36	chr10:46156800-46158200	Strong transcription	Primary T cells from cord blood	blood
37	chr10:46156800-46158200	Strong transcription	Dnd41	blood
38	chr10:46156800-46158400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:46156800-46158800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:46156800-46167000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr10:46156800-46167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:46157000-46158200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:46157000-46158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:46157000-46158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:46157000-46158400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:46157000-46158400	Strong transcription	Fetal Thymus	thymus
47	chr10:46157000-46158800	Strong transcription	Primary B cells from cord blood	blood
48	chr10:46157000-46167000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:46157000-46167000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:46157000-46167000	Weak transcription	Fetal Intestine Small	intestine

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