Variant report

Variant	rs73494031
Chromosome Location	chr13:50689275-50689276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50655147..50657898-chr13:50688877..50690738,2	K562	blood:
2	chr13:50671088..50673566-chr13:50688986..50691858,2	K562	blood:
3	chr13:50679351..50682085-chr13:50688250..50690548,2	K562	blood:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000214359	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1056543	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1326121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066569	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066580	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116235	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.93[AMR][1000 genomes]
rs60897215	0.85[AFR][1000 genomes]
rs61623782	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491507	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73491522	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494012	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078710	0.85[AFR][1000 genomes]
rs74078712	0.85[AFR][1000 genomes]
rs7986331	0.88[AFR][1000 genomes]
rs7993496	0.85[AFR][1000 genomes]
rs7999257	0.81[AMR][1000 genomes]
rs8001223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
3	chr13:50671600-50689800	Weak transcription	Colonic Mucosa	Colon
4	chr13:50672000-50689400	Weak transcription	Right Ventricle	heart
5	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:50673600-50690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:50673800-50693800	Weak transcription	K562	blood
8	chr13:50673800-50697600	Weak transcription	HSMM	muscle
9	chr13:50674000-50689400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:50674000-50689400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:50674000-50689600	Weak transcription	Aorta	Aorta
12	chr13:50674000-50693800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:50674000-50695000	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:50674000-50695400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:50674000-50695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:50674000-50697200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50674000-50697600	Weak transcription	Esophagus	oesophagus
18	chr13:50674200-50689400	Weak transcription	Left Ventricle	heart
19	chr13:50674200-50695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:50674600-50695400	Weak transcription	Fetal Intestine Small	intestine
21	chr13:50676800-50695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:50678000-50689600	Weak transcription	Liver	Liver
23	chr13:50679200-50697200	Weak transcription	NH-A	brain
24	chr13:50679400-50691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:50681400-50693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:50681400-50697200	Weak transcription	Fetal Kidney	kidney
27	chr13:50681600-50689600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:50681800-50691000	Weak transcription	Osteobl	bone
29	chr13:50682000-50689400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr13:50682000-50692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:50682000-50694600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:50682000-50697200	Weak transcription	NHDF-Ad	bronchial
33	chr13:50682200-50689400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr13:50682200-50690600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:50682200-50692200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr13:50682200-50696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:50682800-50698000	Weak transcription	Ovary	ovary
38	chr13:50684800-50693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:50685200-50695400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:50685400-50690600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:50686000-50689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr13:50686000-50689600	Weak transcription	Dnd41	blood
43	chr13:50687600-50689400	Strong transcription	Fetal Thymus	thymus
44	chr13:50687600-50690000	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr13:50687800-50690000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr13:50688000-50689400	Weak transcription	Psoas Muscle	Psoas
47	chr13:50688200-50691000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:50688400-50689400	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:50688400-50690000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:50688400-50690000	Enhancers	Brain Hippocampus Middle	brain

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