Variant report

Variant	rs1595260
Chromosome Location	chr14:69267695-69267696
allele	A/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	JUND	chr14:69267033-69268076	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:69267036-69268053	Hela-S3	cervix:	n/a	chr14:69267273-69267284
3	TBP	chr14:69266959-69267960	Hela-S3	cervix:	n/a	n/a
4	PRDM1	chr14:69267176-69267898	Hela-S3	cervix:	n/a	n/a
5	EP300	chr14:69266968-69267994	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ZFP36L1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10142466	0.95[ASN][1000 genomes]
rs11626883	0.95[ASN][1000 genomes]
rs12889006	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1465788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17106304	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17835641	0.95[ASN][1000 genomes]
rs17835647	0.95[ASN][1000 genomes]
rs1836984	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs194748	0.92[ASN][1000 genomes]
rs194749	0.97[ASN][1000 genomes]
rs194751	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194778	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2236262	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2236263	0.86[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34489253	0.98[ASN][1000 genomes]
rs367677	0.89[ASN][1000 genomes]
rs3742887	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825568	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4899258	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899259	0.92[ASN][1000 genomes]
rs4902647	0.80[JPT][hapmap]
rs4902651	0.95[ASN][1000 genomes]
rs6573857	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146217	0.84[JPT][hapmap];0.81[YRI][hapmap]
rs7149271	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156516	0.92[ASN][1000 genomes]
rs8011558	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs8022092	0.98[ASN][1000 genomes]
rs927292	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1595260	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264000-69271600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
6	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
9	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:69265600-69267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:69266600-69269200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:69266800-69267800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:69266800-69268000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:69266800-69268000	Enhancers	Dnd41	blood
17	chr14:69266800-69269200	Enhancers	Hela-S3	cervix
18	chr14:69267000-69268000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:69267000-69268000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:69267000-69268000	Enhancers	Osteobl	bone
21	chr14:69267000-69268200	Enhancers	HMEC	breast
22	chr14:69267200-69268000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:69267200-69268200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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