Variant report

Variant	rs1276114
Chromosome Location	chr14:70393045-70393046
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	chr14:70377640..70380047-chr14:70391556..70394013,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1276115	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1276116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1276120	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1276121	0.83[ASN][1000 genomes]
rs1314983	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190133	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1951510	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs227388	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3926202	0.85[ASN][1000 genomes]
rs927414	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs962959	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70377800-70394400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70384800-70394400	Weak transcription	HepG2	liver
3	chr14:70389000-70396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70389200-70394400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70389400-70393800	Weak transcription	Spleen	Spleen
6	chr14:70389400-70394400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:70389400-70394400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:70391000-70393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70391200-70394600	Weak transcription	NH-A	brain
11	chr14:70391400-70393400	Weak transcription	Placenta	Placenta
12	chr14:70391400-70394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70391400-70394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:70391400-70394600	Weak transcription	Osteobl	bone
15	chr14:70391800-70395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:70392000-70393400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:70392000-70396800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:70392800-70393200	Strong transcription	Liver	Liver
19	chr14:70392800-70393600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:70392800-70393600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:70392800-70395200	Genic enhancers	Hela-S3	cervix
22	chr14:70392800-70395400	Enhancers	Fetal Stomach	stomach
23	chr14:70393000-70393600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:70393000-70393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:70393000-70393600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:70393000-70396000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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