Variant report

Variant	rs71416319
Chromosome Location	chr14:64322795-64322796
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	chr14:64318739..64321542-chr14:64322571..64324157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11158520	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11850711	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12588807	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588955	0.86[ASN][1000 genomes]
rs12589453	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878037	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878348	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879374	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12881942	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882429	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894963	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34328391	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34451919	0.86[ASN][1000 genomes]
rs34556545	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34561759	1.00[ASN][1000 genomes]
rs35009554	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033077	0.83[ASN][1000 genomes]
rs35168922	1.00[ASN][1000 genomes]
rs35302448	1.00[ASN][1000 genomes]
rs35984502	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3818774	0.88[AMR][1000 genomes]
rs4459477	1.00[ASN][1000 genomes]
rs4902250	1.00[ASN][1000 genomes]
rs6573539	0.86[EUR][1000 genomes]
rs66684280	1.00[ASN][1000 genomes]
rs67289344	1.00[ASN][1000 genomes]
rs7144308	0.86[ASN][1000 genomes]
rs7401191	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3355344	chr14:64268248-64323934	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64319400-64322800	Active TSS	GM12878-XiMat	blood
2	chr14:64320800-64322800	Flanking Active TSS	Dnd41	blood
3	chr14:64321000-64322800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64321200-64323000	Enhancers	Fetal Lung	lung
5	chr14:64321200-64323200	Enhancers	Small Intestine	intestine
6	chr14:64321200-64327000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:64321200-64333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:64321200-64334600	Weak transcription	Pancreas	Pancrea
9	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:64321400-64322800	Enhancers	Placenta	Placenta
11	chr14:64321400-64322800	Enhancers	HepG2	liver
12	chr14:64321400-64323000	Enhancers	Fetal Heart	heart
13	chr14:64321400-64323000	Enhancers	Fetal Intestine Small	intestine
14	chr14:64321400-64323000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:64321400-64323600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:64321400-64323800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:64321400-64324200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:64321400-64324200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:64321400-64324800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:64321400-64324800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:64321400-64330600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:64321400-64331200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
24	chr14:64321600-64322800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:64321600-64323000	Enhancers	Primary T cells from cord blood	blood
26	chr14:64321600-64323000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:64321600-64323400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:64321600-64323800	Weak transcription	HSMM	muscle
29	chr14:64321600-64326200	Weak transcription	HSMMtube	muscle
30	chr14:64321600-64326800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:64321800-64322800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr14:64321800-64322800	Enhancers	Fetal Kidney	kidney
33	chr14:64321800-64322800	Flanking Active TSS	NHEK	skin
34	chr14:64321800-64323000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr14:64321800-64323000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:64321800-64323000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr14:64322000-64322800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:64322000-64322800	Enhancers	Fetal Brain Male	brain
39	chr14:64322000-64322800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:64322000-64323000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:64322000-64323000	Flanking Active TSS	Right Atrium	heart
42	chr14:64322000-64323200	Enhancers	Aorta	Aorta
43	chr14:64322000-64323200	Enhancers	Spleen	Spleen
44	chr14:64322000-64324600	Enhancers	Stomach Mucosa	stomach
45	chr14:64322200-64322800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:64322200-64323000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:64322200-64323000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:64322200-64323000	Flanking Active TSS	Fetal Brain Female	brain
49	chr14:64322200-64323000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:64322200-64323000	Enhancers	Hela-S3	cervix

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