Variant report

Variant	rs227406
Chromosome Location	chr14:70485846-70485847
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	chr14:70464914..70467730-chr14:70484220..70485964,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs227410	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs227411	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr14:70475800-70487200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
4	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:70482200-70488200	Weak transcription	HepG2	liver
7	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70484000-70486000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70484200-70486200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:70484200-70486200	Enhancers	NHEK	skin
11	chr14:70484400-70486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:70484400-70486400	Enhancers	Spleen	Spleen
13	chr14:70484400-70486400	Enhancers	HMEC	breast
14	chr14:70484600-70486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:70484600-70486000	Enhancers	Fetal Stomach	stomach
16	chr14:70484600-70486400	Enhancers	Brain Angular Gyrus	brain
17	chr14:70484600-70486400	Enhancers	GM12878-XiMat	blood
18	chr14:70484800-70486000	Enhancers	Esophagus	oesophagus
19	chr14:70484800-70486000	Enhancers	Fetal Muscle Leg	muscle
20	chr14:70484800-70486000	Enhancers	Pancreas	Pancrea
21	chr14:70484800-70486000	Enhancers	HSMMtube	muscle
22	chr14:70484800-70486600	Enhancers	Brain Substantia Nigra	brain
23	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:70485200-70486000	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:70485200-70486000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:70485200-70486000	Enhancers	Lung	lung
28	chr14:70485200-70486000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:70485200-70486200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:70485200-70486200	Enhancers	Fetal Thymus	thymus
31	chr14:70485200-70486200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:70485200-70486400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:70485200-70486600	Enhancers	Placenta	Placenta
34	chr14:70485400-70486000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:70485400-70486000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr14:70485400-70486000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:70485400-70486000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:70485400-70486000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:70485400-70486000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr14:70485400-70486000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr14:70485400-70486200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:70485400-70486200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:70485400-70486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:70485400-70486200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr14:70485400-70486400	Enhancers	Left Ventricle	heart
46	chr14:70485400-70486400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:70485400-70486400	Enhancers	Stomach Mucosa	stomach
48	chr14:70485600-70486000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:70485600-70486000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr14:70485600-70486000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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