Variant report

Variant	rs12760234
Chromosome Location	chr1:172038079-172038080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10752864	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10797689	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911004	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12029864	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12075807	0.99[ASN][1000 genomes]
rs12091015	0.98[ASN][1000 genomes]
rs1555381	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2104037	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2819525	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2819526	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2819527	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35665317	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075021	0.92[EUR][1000 genomes]
rs6670207	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671218	0.90[EUR][1000 genomes]
rs6676154	0.92[EUR][1000 genomes]
rs9425847	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9659615	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	nsv3532	chr1:171997451-172042351	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172015000-172042600	Weak transcription	Fetal Brain Female	brain
3	chr1:172020200-172038800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:172020200-172040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:172024600-172040400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:172024800-172040600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:172025200-172040600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:172035800-172040400	Weak transcription	Left Ventricle	heart
9	chr1:172037000-172038200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:172037600-172038200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:172037600-172041400	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:172037800-172038200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:172037800-172038200	ZNF genes & repeats	Ovary	ovary
14	chr1:172037800-172039400	Enhancers	Brain Hippocampus Middle	brain
15	chr1:172037800-172041200	Enhancers	Brain Substantia Nigra	brain
16	chr1:172037800-172041800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:172038000-172038200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:172038000-172038200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:172038000-172038400	Enhancers	Fetal Stomach	stomach
20	chr1:172038000-172039400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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