Variant report

Variant	rs1801247
Chromosome Location	chr13:52520471-52520472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60579905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957235	1.00[AFR][1000 genomes]
rs61957424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61957447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957453	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957454	0.80[EUR][1000 genomes]
rs61957455	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526809	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526813	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535794	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9535803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535804	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535805	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535806	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9535807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535808	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535809	0.83[EUR][1000 genomes]
rs9535827	1.00[AFR][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv455888	chr13:52491193-52570728	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv561649	chr13:52491193-52570728	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52486400-52523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
4	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:52494800-52527000	Weak transcription	Fetal Lung	lung
6	chr13:52496600-52524200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:52501000-52550400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:52501600-52532400	Strong transcription	HepG2	liver
9	chr13:52502800-52529200	Weak transcription	Psoas Muscle	Psoas
10	chr13:52504200-52533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:52504600-52537000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:52505600-52520800	Strong transcription	Fetal Intestine Small	intestine
13	chr13:52505600-52531800	Strong transcription	Liver	Liver
14	chr13:52505800-52527200	Strong transcription	Fetal Intestine Large	intestine
15	chr13:52506000-52520800	Strong transcription	Adipose Nuclei	Adipose
16	chr13:52506000-52527200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:52506800-52524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:52508000-52532200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:52509000-52530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:52509200-52549800	Weak transcription	Brain Substantia Nigra	brain
21	chr13:52509200-52553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:52509400-52548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:52509800-52529600	Weak transcription	Small Intestine	intestine
24	chr13:52511400-52520600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:52511400-52520600	Strong transcription	Right Ventricle	heart
26	chr13:52511800-52535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:52512600-52544000	Weak transcription	Brain Angular Gyrus	brain
28	chr13:52513200-52553000	Weak transcription	Placenta	Placenta
29	chr13:52513400-52542000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:52513400-52555400	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:52514600-52520600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr13:52514600-52521000	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:52514800-52520800	Strong transcription	Brain Anterior Caudate	brain
34	chr13:52515400-52520600	Strong transcription	Brain Germinal Matrix	brain
35	chr13:52515800-52520600	Strong transcription	Fetal Stomach	stomach
36	chr13:52515800-52520600	Strong transcription	Ovary	ovary
37	chr13:52516000-52531800	Weak transcription	Fetal Kidney	kidney
38	chr13:52516000-52548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:52516200-52524800	Weak transcription	Fetal Heart	heart
40	chr13:52516600-52520800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:52516600-52554000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:52516800-52522000	Weak transcription	K562	blood
43	chr13:52516800-52529200	Weak transcription	Pancreas	Pancrea
44	chr13:52516800-52555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:52518000-52520800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr13:52518400-52520600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:52518400-52529200	Weak transcription	Colonic Mucosa	Colon
48	chr13:52518600-52520800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr13:52518600-52528600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:52518600-52528600	Weak transcription	Stomach Mucosa	stomach

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