Variant report

Variant	rs1713419
Chromosome Location	chr14:20834548-20834549
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	chr14:20832744..20836299-chr14:20840104..20843519,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129566	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10134743	0.82[TSI][hapmap]
rs1132644	0.83[MEX][hapmap]
rs11623837	0.82[TSI][hapmap]
rs12889262	0.83[MEX][hapmap]
rs1713418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713448	0.88[YRI][hapmap]
rs3784244	0.83[MEX][hapmap]
rs6575164	0.84[MEX][hapmap];0.83[TSI][hapmap]
rs7160770	0.88[MEX][hapmap];0.87[TSI][hapmap]

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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:20823200-20834600	Weak transcription	Small Intestine	intestine
7	chr14:20824600-20840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:20824800-20836000	Weak transcription	Psoas Muscle	Psoas
9	chr14:20824800-20836200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:20824800-20839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:20825000-20836600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:20825000-20836800	Weak transcription	Stomach Mucosa	stomach
13	chr14:20825200-20834600	Weak transcription	Aorta	Aorta
14	chr14:20825200-20863200	Weak transcription	Fetal Heart	heart
15	chr14:20825400-20834800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:20825800-20834600	Weak transcription	Right Ventricle	heart
17	chr14:20825800-20837400	Weak transcription	Fetal Kidney	kidney
18	chr14:20825800-20846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:20826000-20834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:20826000-20836000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:20826200-20839000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:20826200-20841400	Weak transcription	K562	blood
23	chr14:20826400-20836600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:20826400-20836800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:20826400-20847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:20826600-20836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:20826600-20836200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:20826600-20840800	Weak transcription	Fetal Brain Male	brain
29	chr14:20826800-20834600	Weak transcription	Ovary	ovary
30	chr14:20826800-20836000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:20827200-20836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:20827400-20835600	Weak transcription	Fetal Brain Female	brain
33	chr14:20827600-20834800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:20827600-20836000	Weak transcription	A549	lung
35	chr14:20827800-20834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:20827800-20836000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:20827800-20836800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:20827800-20840400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:20828000-20836000	Weak transcription	HepG2	liver
40	chr14:20828000-20836600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:20828000-20842600	Strong transcription	Fetal Intestine Small	intestine
42	chr14:20828200-20836000	Weak transcription	Brain Germinal Matrix	brain
43	chr14:20829000-20836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:20829000-20855800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:20829200-20877000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:20829400-20834600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:20829400-20843400	Strong transcription	Fetal Intestine Large	intestine
48	chr14:20829400-20855800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:20829400-20876800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:20829600-20876800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links