Variant report

Variant	rs17129327
Chromosome Location	chr1:67143976-67143977
allele	C/T
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	MAFK	chr1:67143973-67144125	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248458	TF binding region
SGIP1	TF binding region

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032634	1.00[CHB][hapmap]
rs1032635	1.00[CHB][hapmap]
rs11208944	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs11208945	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs11810644	1.00[CHB][hapmap]
rs12070427	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12083409	0.81[YRI][hapmap]
rs1280280	1.00[CHB][hapmap]
rs1280310	1.00[CHB][hapmap]
rs17129292	0.82[YRI][hapmap]
rs17129329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17129365	1.00[CHB][hapmap]
rs17440989	1.00[CHB][hapmap]
rs17492182	1.00[CHB][hapmap]
rs2146904	1.00[CHB][hapmap]
rs2483704	1.00[CHB][hapmap]
rs2483705	1.00[CHB][hapmap]
rs2916	1.00[CHB][hapmap]
rs485521	1.00[CHB][hapmap]
rs492109	1.00[CHB][hapmap]
rs499263	1.00[CHB][hapmap]
rs502690	1.00[CHB][hapmap]
rs523132	1.00[CHB][hapmap]
rs523188	1.00[CHB][hapmap]
rs523956	1.00[CHB][hapmap]
rs524114	1.00[CHB][hapmap]
rs536410	1.00[CHB][hapmap]
rs536527	1.00[CHB][hapmap]
rs539014	1.00[CHB][hapmap]
rs602513	1.00[CHB][hapmap]
rs603750	1.00[CHB][hapmap]
rs618093	1.00[CHB][hapmap]
rs628655	1.00[CHB][hapmap]
rs659291	1.00[CHB][hapmap]
rs665319	1.00[CHB][hapmap]
rs672230	1.00[CHB][hapmap]
rs7515848	1.00[CHB][hapmap]
rs7554101	1.00[CHB][hapmap]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
3	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
4	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:67137400-67148000	Weak transcription	Fetal Brain Female	brain
10	chr1:67137600-67155000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:67137800-67155000	Weak transcription	Fetal Brain Male	brain
12	chr1:67138000-67147200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:67138000-67154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:67139200-67146400	Weak transcription	Fetal Lung	lung
15	chr1:67139600-67148000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:67139800-67145400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:67140400-67154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
19	chr1:67140800-67147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:67141200-67148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:67141600-67144800	Enhancers	NH-A	brain
22	chr1:67141800-67144600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:67141800-67144600	Enhancers	HUVEC	blood vessel
24	chr1:67142200-67145200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:67142400-67144000	Enhancers	Osteobl	bone
26	chr1:67142400-67145200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:67142400-67148000	Weak transcription	Aorta	Aorta
28	chr1:67142600-67144600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:67142600-67144800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:67142600-67147200	Weak transcription	NHLF	lung
31	chr1:67142800-67147200	Weak transcription	NHDF-Ad	bronchial
32	chr1:67143000-67144800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:67143400-67145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:67143400-67149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:67143600-67147200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:67143600-67149600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:67143800-67144200	Weak transcription	HSMMtube	muscle

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