Variant report

Variant	rs17129332
Chromosome Location	chr1:67158014-67158015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr1:67158005-67158547	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SGIP1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11208941	0.87[AMR][1000 genomes]
rs12035546	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12039010	0.87[AMR][1000 genomes]
rs12565436	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12728269	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12746750	0.85[AMR][1000 genomes]
rs1325267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1853772	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34093441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34868698	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35393617	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67687377	0.87[AMR][1000 genomes]
rs9633417	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
2	chr1:67144600-67160800	Weak transcription	Lung	lung
3	chr1:67149200-67161000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:67152000-67162800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:67152800-67159800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:67153400-67161200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:67155200-67158200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr1:67155600-67159600	Weak transcription	NHDF-Ad	bronchial
9	chr1:67155600-67167400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:67155800-67158200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:67155800-67164600	Weak transcription	Fetal Brain Male	brain
12	chr1:67155800-67168200	Weak transcription	Fetal Heart	heart
13	chr1:67155800-67177200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:67156000-67159600	Weak transcription	NHLF	lung
15	chr1:67156000-67161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:67156000-67177200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:67156200-67159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:67156200-67164400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:67156600-67158200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:67156800-67166800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:67156800-67167600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:67156800-67191400	Weak transcription	Fetal Brain Female	brain
23	chr1:67157000-67160800	Weak transcription	Aorta	Aorta
24	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:67157200-67160200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:67157200-67160600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:67157200-67160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:67157200-67160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:67157200-67189600	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:67157400-67162200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:67157400-67191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:67157600-67169400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:67158000-67158200	Enhancers	Left Ventricle	heart
34	chr1:67158000-67158400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:67158000-67158600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr1:67158000-67158600	Strong transcription	NH-A	brain

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