Variant report

Variant	rs194778
Chromosome Location	chr14:69264656-69264657
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	CUX1	chr14:69264526-69264828	GM12878	blood:	n/a	n/a
2	BRCA1	chr14:69264631-69264720	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr14:69264600-69264730	GM12878	blood:	n/a	n/a
4	RUNX3	chr14:69264219-69264819	GM12878	blood:	n/a	n/a
5	ZNF384	chr14:69264395-69264696	GM12878	blood:	n/a	n/a
6	IKZF1	chr14:69264350-69264753	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68657329..68659380-chr14:69264255..69267196,2	MCF-7	breast:

Variant related genes	Relation type
ZFP36L1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10142466	0.93[ASN][1000 genomes]
rs11158762	0.83[JPT][hapmap]
rs11626883	0.93[ASN][1000 genomes]
rs12889006	0.86[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1465788	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1595260	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1595261	0.93[ASN][1000 genomes]
rs168962	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17106304	0.93[ASN][1000 genomes]
rs17835641	0.93[ASN][1000 genomes]
rs17835647	0.93[ASN][1000 genomes]
rs1836984	0.96[ASN][1000 genomes]
rs194714	0.81[EUR][1000 genomes]
rs194733	0.81[CEU][hapmap]
rs194748	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs194749	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194751	0.93[ASN][1000 genomes]
rs2236262	0.85[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2236263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34489253	0.96[ASN][1000 genomes]
rs367677	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742887	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3825568	0.86[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs402223	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899258	0.95[ASN][1000 genomes]
rs4899259	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902651	0.93[ASN][1000 genomes]
rs6573857	0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7146217	0.89[JPT][hapmap]
rs7149271	0.95[ASN][1000 genomes]
rs7156516	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8022092	0.96[ASN][1000 genomes]
rs927292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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
rs194778	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69265000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:69263200-69265000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:69263200-69273000	Weak transcription	Ovary	ovary
4	chr14:69263200-69273200	Weak transcription	HSMM	muscle
5	chr14:69263400-69264800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:69263400-69267000	Weak transcription	HMEC	breast
7	chr14:69263600-69265200	Enhancers	GM12878-XiMat	blood
8	chr14:69263600-69266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:69263600-69266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:69263600-69266800	Weak transcription	Dnd41	blood
11	chr14:69263600-69267000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:69263600-69267000	Weak transcription	Osteobl	bone
13	chr14:69263600-69273200	Weak transcription	NH-A	brain
14	chr14:69263800-69265000	Enhancers	Hela-S3	cervix
15	chr14:69263800-69266600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:69263800-69266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:69264000-69265200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:69264000-69266600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:69264000-69267200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:69264000-69271600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:69264200-69264800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:69264200-69264800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:69264200-69265000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:69264200-69265800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:69264200-69266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:69264200-69267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:69264200-69267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:69264200-69267000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69264200-69267000	Weak transcription	A549	lung
30	chr14:69264200-69267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
32	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69264400-69264800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:69264400-69264800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:69264400-69265000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:69264400-69265000	Enhancers	K562	blood
38	chr14:69264400-69267000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:69264400-69267400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
41	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:69264600-69266800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:69264600-69267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:69264600-69267000	Weak transcription	NHEK	skin
45	chr14:69264600-69267200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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