Variant report

Variant	rs1865326
Chromosome Location	chr2:179228132-179228133
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179226707..179228484-chr2:179243223..179245801,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10190530	0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12468511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12476608	0.96[ASN][1000 genomes]
rs12615771	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13402046	0.95[AFR][1000 genomes]
rs1434090	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434094	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61587243	0.96[ASN][1000 genomes]
rs6433724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706330	0.81[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6706354	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710060	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721855	0.94[AFR][1000 genomes]
rs6724982	0.81[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs6738236	0.81[AFR][1000 genomes]
rs6738243	0.89[AFR][1000 genomes]
rs6738749	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6738847	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs733551	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7580795	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7581278	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7607321	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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:40 , 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	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
6	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
9	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:179201800-179268200	Weak transcription	HSMM	muscle
11	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
12	chr2:179202400-179248000	Weak transcription	NH-A	brain
13	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
14	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
15	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179215600-179239800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:179217400-179240400	Weak transcription	Aorta	Aorta
19	chr2:179217400-179248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:179217600-179239600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:179217600-179241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:179217800-179239000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:179218200-179240000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:179219000-179248000	Weak transcription	Left Ventricle	heart
25	chr2:179224800-179228400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:179224800-179228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:179224800-179239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:179225000-179229200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:179225000-179257800	Weak transcription	Lung	lung
30	chr2:179225800-179233000	Weak transcription	Ovary	ovary
31	chr2:179226000-179228400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:179226000-179229400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:179226600-179257200	Weak transcription	Gastric	stomach
34	chr2:179227000-179240600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:179227200-179228800	Enhancers	HMEC	breast
36	chr2:179227400-179228400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:179227400-179228600	Enhancers	NHEK	skin
38	chr2:179227400-179228800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:179227600-179239600	Weak transcription	Liver	Liver
40	chr2:179227800-179228400	Enhancers	Muscle Satellite Cultured Cells	--

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