Variant report

Variant	rs194730
Chromosome Location	chr14:69307485-69307486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:
2	chr14:69259380..69263857-chr14:69306830..69310059,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10136476	0.84[ASN][1000 genomes]
rs10139345	0.92[ASN][1000 genomes]
rs10143060	0.89[ASN][1000 genomes]
rs10143220	0.89[ASN][1000 genomes]
rs10143529	0.83[ASN][1000 genomes]
rs10873217	0.93[ASN][1000 genomes]
rs11158767	0.88[ASN][1000 genomes]
rs11625403	0.88[ASN][1000 genomes]
rs1274952	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1274953	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1274954	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1295793	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs168962	0.80[EUR][1000 genomes]
rs1742893	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183171	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194714	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194715	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194717	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194733	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194739	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194741	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194748	0.80[EUR][1000 genomes]
rs402223	0.82[EUR][1000 genomes]
rs4288924	0.93[ASN][1000 genomes]
rs4899259	0.82[EUR][1000 genomes]
rs4902654	0.83[ASN][1000 genomes]
rs7142145	0.88[ASN][1000 genomes]
rs7142589	0.88[ASN][1000 genomes]
rs7149042	0.89[ASN][1000 genomes]
rs7156516	0.82[EUR][1000 genomes]
rs750658	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2755940	chr14:69301705-69318262	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194730	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69300600-69307600	Strong transcription	HSMM	muscle
2	chr14:69302200-69308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:69303200-69308000	Weak transcription	Osteobl	bone
4	chr14:69303200-69310000	Weak transcription	Ovary	ovary
5	chr14:69303400-69308000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:69304400-69307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69304400-69308000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:69305400-69310000	Weak transcription	Right Ventricle	heart
9	chr14:69305600-69307800	Strong transcription	HSMMtube	muscle
10	chr14:69305600-69308200	Weak transcription	Fetal Stomach	stomach
11	chr14:69305800-69310200	Weak transcription	Lung	lung
12	chr14:69305800-69310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69306400-69308600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:69306400-69310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:69306400-69310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
17	chr14:69306600-69307800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69306600-69307800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:69307200-69307800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:69307200-69307800	Enhancers	GM12878-XiMat	blood
21	chr14:69307200-69308600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:69307200-69308800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:69307200-69308800	Enhancers	HMEC	breast
24	chr14:69307200-69309000	Enhancers	NHLF	lung
25	chr14:69307200-69310800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:69307400-69307600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:69307400-69307600	Genic enhancers	NH-A	brain
28	chr14:69307400-69308000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:69307400-69308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:69307400-69308400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr14:69307400-69308600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:69307400-69308600	Enhancers	NHEK	skin
33	chr14:69307400-69308800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:69307400-69309200	Enhancers	HUVEC	blood vessel
35	chr14:69307400-69310200	Enhancers	Colon Smooth Muscle	Colon
36	chr14:69307400-69310400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:69307400-69311200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links