Variant report

Variant	rs61957453
Chromosome Location	chr13:52529571-52529572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52522149..52524363-chr13:52528676..52530661,2	K562	blood:
2	chr13:52526952..52529945-chr13:52530392..52532548,2	MCF-7	breast:
3	chr13:52528654..52531315-chr13:52532964..52534953,3	K562	blood:
4	chr13:52528629..52531468-chr13:52535704..52537368,2	K562	blood:

Variant related genes	Relation type
ENSG00000123191	Chromatin interaction

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

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

rs_ID	r²[population]
rs1801247	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61957447	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957449	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];0.83[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526813	1.00[AFR][1000 genomes];0.83[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535804	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535805	1.00[AFR][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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535808	1.00[AFR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
3	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:52501000-52550400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:52501600-52532400	Strong transcription	HepG2	liver
6	chr13:52504200-52533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:52504600-52537000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:52505600-52531800	Strong transcription	Liver	Liver
9	chr13:52508000-52532200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:52509000-52530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:52509200-52549800	Weak transcription	Brain Substantia Nigra	brain
12	chr13:52509200-52553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:52509400-52548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:52509800-52529600	Weak transcription	Small Intestine	intestine
15	chr13:52511800-52535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:52512600-52544000	Weak transcription	Brain Angular Gyrus	brain
17	chr13:52513200-52553000	Weak transcription	Placenta	Placenta
18	chr13:52513400-52542000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:52513400-52555400	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:52516000-52531800	Weak transcription	Fetal Kidney	kidney
21	chr13:52516000-52548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:52516600-52554000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:52516800-52555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:52519400-52546000	Weak transcription	Spleen	Spleen
25	chr13:52520600-52553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:52520800-52531400	Weak transcription	Brain Anterior Caudate	brain
27	chr13:52523800-52532800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:52525200-52530000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:52525200-52531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:52525200-52550200	Weak transcription	Fetal Brain Female	brain
31	chr13:52525400-52531400	Strong transcription	Fetal Intestine Small	intestine
32	chr13:52525400-52553000	Weak transcription	Ovary	ovary
33	chr13:52527000-52530800	Enhancers	Fetal Lung	lung
34	chr13:52527800-52530200	Weak transcription	Primary T cells from cord blood	blood
35	chr13:52528000-52530800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:52528000-52543200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:52528200-52529600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:52528200-52530200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr13:52528200-52530800	Enhancers	Fetal Muscle Trunk	muscle
40	chr13:52528200-52532600	Enhancers	Fetal Muscle Leg	muscle
41	chr13:52528200-52532800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr13:52528200-52536000	Strong transcription	Adipose Nuclei	Adipose
43	chr13:52528400-52529600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:52528400-52530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr13:52528400-52530400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:52528400-52531200	Strong transcription	Fetal Stomach	stomach
47	chr13:52528400-52540800	Weak transcription	Lung	lung
48	chr13:52528400-52544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:52528600-52530000	Genic enhancers	K562	blood
50	chr13:52528600-52530200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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