Variant report

Variant	rs12889251
Chromosome Location	chr14:68994140-68994141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68982120..68984316-chr14:68992913..68995083,2	MCF-7	breast:
2	chr14:68987292..68989067-chr14:68991224..68994887,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483812	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10483813	0.86[CEU][hapmap];0.87[AMR][1000 genomes]
rs11621276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.95[CEU][hapmap];0.89[AMR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs17105780	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17105847	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17755925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.87[AMR][1000 genomes]
rs17828907	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17828955	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158357	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.95[ASN][1000 genomes]
rs36028293	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423317	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423318	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	0.86[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs999737	0.85[CEU][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
2	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
3	chr14:68990000-68994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68990000-68995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:68990000-68995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:68990000-68996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:68991600-68994400	Enhancers	Lung	lung
8	chr14:68991800-68994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:68991800-68994200	Weak transcription	Thymus	Thymus
10	chr14:68992400-68994600	Weak transcription	Primary T cells from cord blood	blood
11	chr14:68992600-68996000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:68993000-68994200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:68993000-68994200	Enhancers	NHEK	skin
14	chr14:68993000-68994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:68993000-68994400	Enhancers	HMEC	breast
16	chr14:68993000-68994400	Enhancers	NHDF-Ad	bronchial
17	chr14:68993000-68994600	Enhancers	A549	lung
18	chr14:68993000-68994600	Enhancers	NH-A	brain
19	chr14:68993000-68995000	Enhancers	Fetal Intestine Large	intestine
20	chr14:68993000-68995000	Enhancers	Fetal Kidney	kidney
21	chr14:68993000-68995800	Enhancers	Liver	Liver
22	chr14:68993200-68994200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:68993200-68994200	Enhancers	Brain Anterior Caudate	brain
24	chr14:68993200-68994200	Enhancers	Esophagus	oesophagus
25	chr14:68993200-68994400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:68993200-68994400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:68993200-68994400	Enhancers	Adipose Nuclei	Adipose
28	chr14:68993200-68994400	Enhancers	Brain Substantia Nigra	brain
29	chr14:68993200-68994400	Enhancers	Colonic Mucosa	Colon
30	chr14:68993200-68994400	Enhancers	Fetal Muscle Leg	muscle
31	chr14:68993200-68994400	Enhancers	Placenta	Placenta
32	chr14:68993200-68994400	Enhancers	Left Ventricle	heart
33	chr14:68993200-68994400	Enhancers	Psoas Muscle	Psoas
34	chr14:68993200-68994600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr14:68993200-68995000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:68993200-68995200	Enhancers	Rectal Smooth Muscle	rectum
37	chr14:68993200-68995600	Enhancers	Colon Smooth Muscle	Colon
38	chr14:68993400-68994200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:68993400-68994200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:68993400-68994200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:68993400-68994200	Flanking Active TSS	Osteobl	bone
42	chr14:68993400-68994400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:68993400-68994400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:68993400-68994400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:68993400-68994400	Enhancers	Brain Angular Gyrus	brain
46	chr14:68993400-68994400	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:68993400-68994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:68993400-68994600	Enhancers	Brain Hippocampus Middle	brain
49	chr14:68993400-68995000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:68993400-68995000	Enhancers	Duodenum Mucosa	Duodenum

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