Variant report

Variant	rs61957454
Chromosome Location	chr13:52538136-52538137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52534596..52536484-chr13:52537213..52539765,2	K562	blood:
2	chr13:52537621..52539429-chr13:52564535..52567211,2	K562	blood:

Variant related genes	Relation type
ENSG00000123191	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1801247	0.80[EUR][1000 genomes]
rs2282059	0.90[ASN][1000 genomes]
rs60579905	0.80[EUR][1000 genomes]
rs61957424	0.80[EUR][1000 genomes]
rs61957425	0.80[EUR][1000 genomes]
rs61957447	0.80[EUR][1000 genomes]
rs61957449	0.80[EUR][1000 genomes]
rs61957450	0.97[ASN][1000 genomes]
rs61957452	0.97[ASN][1000 genomes]
rs61957453	0.80[EUR][1000 genomes]
rs61957455	0.80[EUR][1000 genomes]
rs8002753	0.80[EUR][1000 genomes]
rs9526807	0.80[EUR][1000 genomes]
rs9526809	0.82[EUR][1000 genomes]
rs9526813	0.80[EUR][1000 genomes]
rs9535803	0.80[EUR][1000 genomes]
rs9535804	0.82[EUR][1000 genomes]
rs9535805	0.82[EUR][1000 genomes]
rs9535807	0.80[EUR][1000 genomes]
rs9535808	0.82[EUR][1000 genomes]
rs9535809	1.00[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	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:62 , 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	chr13:52509200-52549800	Weak transcription	Brain Substantia Nigra	brain
6	chr13:52509200-52553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:52509400-52548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:52512600-52544000	Weak transcription	Brain Angular Gyrus	brain
9	chr13:52513200-52553000	Weak transcription	Placenta	Placenta
10	chr13:52513400-52542000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:52513400-52555400	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:52516000-52548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:52516600-52554000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:52516800-52555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:52519400-52546000	Weak transcription	Spleen	Spleen
16	chr13:52520600-52553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:52525200-52550200	Weak transcription	Fetal Brain Female	brain
18	chr13:52525400-52553000	Weak transcription	Ovary	ovary
19	chr13:52528000-52543200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:52528400-52540800	Weak transcription	Lung	lung
21	chr13:52528400-52544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:52528800-52542200	Weak transcription	Fetal Heart	heart
23	chr13:52529600-52553000	Weak transcription	Psoas Muscle	Psoas
24	chr13:52529800-52539200	Weak transcription	Right Ventricle	heart
25	chr13:52529800-52541800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:52530200-52542000	Weak transcription	Brain Germinal Matrix	brain
27	chr13:52530200-52555400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:52530400-52541600	Weak transcription	Fetal Thymus	thymus
29	chr13:52530400-52549000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:52530600-52550400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:52530800-52539800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:52530800-52544600	Weak transcription	Pancreas	Pancrea
33	chr13:52530800-52553000	Weak transcription	Fetal Lung	lung
34	chr13:52531000-52540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:52532400-52541800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:52532600-52539000	Weak transcription	Aorta	Aorta
37	chr13:52532800-52539000	Weak transcription	Left Ventricle	heart
38	chr13:52532800-52539600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr13:52532800-52539800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:52532800-52542000	Weak transcription	Brain Anterior Caudate	brain
41	chr13:52532800-52548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:52532800-52553000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr13:52533200-52544600	Strong transcription	HepG2	liver
44	chr13:52534200-52541600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:52534400-52544600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:52534400-52555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr13:52534600-52542000	Weak transcription	Gastric	stomach
48	chr13:52534600-52546000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:52535600-52539400	Weak transcription	HSMMtube	muscle
50	chr13:52536000-52539400	Weak transcription	Adipose Nuclei	Adipose

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