Variant report

Variant	rs11626472
Chromosome Location	chr14:39607180-39607181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39606418..39609970-chr14:39637610..39641065,3	MCF-7	breast:
2	chr14:39605775..39608211-chr14:39643302..39645299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10483542	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759544	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61999429	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs926971	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:39586600-39610600	Strong transcription	HepG2	liver
19	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
23	chr14:39589200-39609200	Weak transcription	Gastric	stomach
24	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
27	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
28	chr14:39592800-39607400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:39592800-39626600	Weak transcription	NHLF	lung
31	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
32	chr14:39594800-39608000	Weak transcription	Brain Angular Gyrus	brain
33	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
34	chr14:39596400-39607400	Weak transcription	Brain Anterior Caudate	brain
35	chr14:39596800-39608200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:39596800-39608600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:39597200-39608000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:39597400-39608200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:39597800-39607200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:39597800-39610000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:39598000-39612600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:39598200-39608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:39598400-39608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:39598600-39609200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:39598600-39610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:39598600-39618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:39598800-39609600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
49	chr14:39600000-39609600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:39600400-39608000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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