Variant report

Variant	rs1256487
Chromosome Location	chr14:65710580-65710581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65687275..65689393-chr14:65708965..65710587,2	MCF-7	breast:
2	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
3	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
4	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
5	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
6	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
7	chr14:65630625..65634047-chr14:65708648..65711135,3	MCF-7	breast:
8	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
9	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
10	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
11	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
12	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258878	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000255002	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1256481	0.92[EUR][1000 genomes]
rs1256483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256485	0.95[EUR][1000 genomes]
rs1256488	0.81[EUR][1000 genomes]
rs1256489	0.95[EUR][1000 genomes]
rs1256490	0.95[EUR][1000 genomes]
rs1256491	0.95[EUR][1000 genomes]
rs1256492	0.95[EUR][1000 genomes]
rs1256493	0.95[EUR][1000 genomes]
rs1256495	0.95[EUR][1000 genomes]
rs1256496	0.95[EUR][1000 genomes]
rs1256497	0.95[EUR][1000 genomes]
rs1256498	0.93[EUR][1000 genomes]
rs1262271	0.95[EUR][1000 genomes]
rs1760969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086465	0.88[EUR][1000 genomes]
rs57454873	0.87[EUR][1000 genomes]
rs59978001	0.86[EUR][1000 genomes]
rs61170796	0.87[EUR][1000 genomes]
rs61989807	0.86[EUR][1000 genomes]
rs7142218	0.86[EUR][1000 genomes]
rs7142951	0.86[EUR][1000 genomes]
rs7146907	0.86[EUR][1000 genomes]
rs8015540	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv564934	chr14:65706758-65712872	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv976853	chr14:65708032-65723266	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3530160	chr14:65709103-65713060	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3530161	chr14:65709131-65713034	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3530162	chr14:65709136-65713012	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3530163	chr14:65709233-65712969	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv18660	chr14:65709258-65712968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv564935	chr14:65710211-65711755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv564936	chr14:65710211-65711837	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv564937	chr14:65710211-65712309	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv516371	chr14:65710211-65712420	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv564938	chr14:65710211-65712420	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv817636	chr14:65710211-65712420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv564939	chr14:65710211-65712667	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv564940	chr14:65710211-65712872	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv564941	chr14:65710301-65711755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv564942	chr14:65710301-65712126	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv564943	chr14:65710301-65712872	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv564944	chr14:65710301-65713314	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv1795814	chr14:65710580-65711755	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv1798267	chr14:65710580-65711755	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv564945	chr14:65710580-65712309	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv564946	chr14:65710580-65712872	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
4	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65706000-65710600	Weak transcription	NHEK	skin
6	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
8	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:65706800-65710600	Weak transcription	Osteobl	bone
10	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
11	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:65708400-65716200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:65708400-65716200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:65708800-65710600	Enhancers	HUVEC	blood vessel
19	chr14:65709000-65710600	Weak transcription	GM12878-XiMat	blood
20	chr14:65709000-65713200	Enhancers	Fetal Intestine Large	intestine
21	chr14:65709200-65710600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr14:65709200-65711400	Flanking Active TSS	A549	lung
23	chr14:65709400-65711000	Flanking Active TSS	HepG2	liver
24	chr14:65709600-65711200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:65709800-65710800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr14:65709800-65711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:65709800-65711000	Enhancers	Placenta	Placenta
28	chr14:65709800-65711200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:65709800-65711600	Enhancers	NH-A	brain
30	chr14:65710000-65710800	Enhancers	K562	blood
31	chr14:65710000-65711400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:65710000-65711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:65710000-65711800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:65710000-65712800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:65710200-65710800	Enhancers	Dnd41	blood
36	chr14:65710200-65711000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:65710400-65711000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:65710400-65711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:65710400-65711000	Enhancers	Pancreas	Pancrea
40	chr14:65710400-65711200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:65710400-65711200	Enhancers	HMEC	breast
42	chr14:65710400-65711200	Enhancers	HSMM	muscle
43	chr14:65710400-65711200	Enhancers	NHLF	lung
44	chr14:65710400-65711400	Enhancers	NHDF-Ad	bronchial
45	chr14:65710400-65711600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:65710400-65711600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:65710400-65711600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:65710400-65711600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr14:65710400-65711600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:65710400-65711600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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