Variant report

Variant	rs6718010
Chromosome Location	chr2:179217354-179217355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12151447	0.81[EUR][1000 genomes]
rs12464380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12464806	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12467040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12467053	0.83[EUR][1000 genomes]
rs12471790	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12473890	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12474919	0.82[EUR][1000 genomes]
rs12478760	0.81[EUR][1000 genomes]
rs12478837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12479281	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13402976	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1434082	0.81[EUR][1000 genomes]
rs1434083	0.81[EUR][1000 genomes]
rs16866272	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4893850	0.88[AMR][1000 genomes]
rs4894008	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4894009	0.80[AMR][1000 genomes]
rs4894012	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4894013	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62176069	0.81[AMR][1000 genomes]
rs62176070	0.82[AMR][1000 genomes]
rs62176076	0.88[AMR][1000 genomes]
rs62179167	0.83[AMR][1000 genomes]
rs6760059	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73032568	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7349264	0.87[AMR][1000 genomes]
rs7576065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7576231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587155	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9646740	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179194600-179229400	Weak transcription	K562	blood
3	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:179198400-179227400	Weak transcription	NHEK	skin
5	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
7	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
11	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:179201800-179268200	Weak transcription	HSMM	muscle
13	chr2:179202400-179227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
15	chr2:179202400-179248000	Weak transcription	NH-A	brain
16	chr2:179206800-179218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:179209000-179220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
19	chr2:179209600-179227200	Weak transcription	HMEC	breast
20	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
21	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:179213800-179217600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:179214600-179218200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr2:179214800-179220200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:179215000-179218200	Weak transcription	Fetal Brain Female	brain
26	chr2:179215000-179218800	Weak transcription	Left Ventricle	heart
27	chr2:179215200-179218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:179215600-179239800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:179216200-179220200	Weak transcription	Brain Germinal Matrix	brain
31	chr2:179216400-179217800	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:179216400-179218200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:179216600-179217400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:179216600-179226200	Weak transcription	Liver	Liver
35	chr2:179216800-179217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:179216800-179217600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:179216800-179217600	Active TSS	HepG2	liver
38	chr2:179217000-179217400	ZNF genes & repeats	Aorta	Aorta
39	chr2:179217000-179217400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:179217000-179217600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:179217000-179223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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