Variant report

Variant	rs2066569
Chromosome Location	chr13:50643588-50643589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50628040..50629720-chr13:50642788..50645600,2	K562	blood:
2	chr13:50642440..50645245-chr13:50696883..50698935,2	K562	blood:
3	chr13:50643414..50645433-chr13:50654629..50656317,2	MCF-7	breast:
4	chr13:50638410..50642177-chr13:50643409..50648630,6	K562	blood:
5	chr13:50641977..50644560-chr13:50723615..50726580,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1056543	1.00[AMR][1000 genomes]
rs1326121	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066588	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55937551	0.86[AMR][1000 genomes]
rs56116235	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.86[AMR][1000 genomes]
rs61623782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491507	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73491522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494012	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494031	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078710	0.83[AFR][1000 genomes]
rs74078712	0.83[AFR][1000 genomes]
rs74078721	0.86[AMR][1000 genomes]
rs74078724	0.86[AMR][1000 genomes]
rs7986331	0.86[AFR][1000 genomes]
rs7993496	0.83[AFR][1000 genomes]
rs8001223	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
4	chr13:50588000-50645600	Weak transcription	Ovary	ovary
5	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
7	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
12	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
14	chr13:50614000-50643800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
16	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
20	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
23	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
27	chr13:50630000-50651000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:50630600-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:50630800-50645400	Weak transcription	Brain Anterior Caudate	brain
30	chr13:50631200-50645200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:50631200-50646200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:50631800-50645400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
34	chr13:50633400-50652200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr13:50634800-50644000	Weak transcription	Aorta	Aorta
36	chr13:50635000-50645000	Weak transcription	Brain Germinal Matrix	brain
37	chr13:50636800-50643600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:50637000-50645600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:50637200-50646200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:50637600-50646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:50638000-50645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:50639400-50645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:50639800-50649000	Genic enhancers	Dnd41	blood
45	chr13:50640200-50650800	Weak transcription	Right Ventricle	heart
46	chr13:50640400-50649800	Weak transcription	Colon Smooth Muscle	Colon
47	chr13:50640600-50644000	Weak transcription	Fetal Heart	heart
48	chr13:50641200-50651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
50	chr13:50641600-50650200	Weak transcription	Primary T cells fromperipheralblood	blood

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