Variant report

Variant	rs1262271
Chromosome Location	chr14:65710122-65710123
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
9	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
10	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
11	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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1256481	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256483	0.84[EUR][1000 genomes]
rs1256485	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256487	0.95[EUR][1000 genomes]
rs1256488	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1256489	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256490	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256491	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256493	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256495	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256496	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256497	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256498	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270077	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1760969	0.94[EUR][1000 genomes]
rs2086465	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57454873	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59978001	0.91[EUR][1000 genomes]
rs61170796	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61989807	0.91[EUR][1000 genomes]
rs7142218	0.91[EUR][1000 genomes]
rs7142951	0.91[EUR][1000 genomes]
rs7146907	0.91[EUR][1000 genomes]
rs72712447	1.00[ASN][1000 genomes]
rs8015540	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

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	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
5	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65706000-65710600	Weak transcription	NHEK	skin
8	chr14:65706600-65710400	Weak transcription	Pancreas	Pancrea
9	chr14:65706600-65710400	Weak transcription	HMEC	breast
10	chr14:65706600-65710400	Weak transcription	HSMM	muscle
11	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
13	chr14:65706800-65710400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:65706800-65710600	Weak transcription	Osteobl	bone
16	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
17	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:65707000-65710200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:65707000-65710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:65707000-65710400	Weak transcription	NHDF-Ad	bronchial
21	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
25	chr14:65708400-65710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:65708400-65710400	Weak transcription	Fetal Thymus	thymus
27	chr14:65708400-65716200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:65708400-65716200	Weak transcription	Brain Substantia Nigra	brain
29	chr14:65708800-65710600	Enhancers	HUVEC	blood vessel
30	chr14:65709000-65710600	Weak transcription	GM12878-XiMat	blood
31	chr14:65709000-65713200	Enhancers	Fetal Intestine Large	intestine
32	chr14:65709200-65710600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:65709200-65711400	Flanking Active TSS	A549	lung
34	chr14:65709400-65711000	Flanking Active TSS	HepG2	liver
35	chr14:65709600-65711200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr14:65709800-65710800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:65709800-65711000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:65709800-65711000	Enhancers	Placenta	Placenta
39	chr14:65709800-65711200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:65709800-65711600	Enhancers	NH-A	brain
41	chr14:65710000-65710400	Enhancers	Gastric	stomach
42	chr14:65710000-65710400	Flanking Active TSS	Stomach Mucosa	stomach
43	chr14:65710000-65710400	Weak transcription	NHLF	lung
44	chr14:65710000-65710800	Enhancers	K562	blood
45	chr14:65710000-65711400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:65710000-65711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:65710000-65711800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:65710000-65712800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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