Variant report

Variant	rs1276115
Chromosome Location	chr14:70394808-70394809
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	chr14:70389062..70391123-chr14:70393251..70396818,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1276114	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	0.84[ASN][1000 genomes]
rs1314983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190133	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1951510	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs227388	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3926202	0.84[ASN][1000 genomes]
rs927414	0.91[CHB][hapmap]
rs962959	0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1276115	NOTCH2NL	trans	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70389000-70396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
3	chr14:70391800-70395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:70392000-70396800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:70392800-70395200	Genic enhancers	Hela-S3	cervix
6	chr14:70392800-70395400	Enhancers	Fetal Stomach	stomach
7	chr14:70393000-70396000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:70393200-70398000	Weak transcription	Liver	Liver
9	chr14:70393400-70395200	Enhancers	Placenta	Placenta
10	chr14:70393800-70395200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:70393800-70395200	Enhancers	Spleen	Spleen
12	chr14:70393800-70395600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70394000-70395200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70394200-70395600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70394400-70395000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:70394400-70395000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:70394400-70395200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:70394400-70395200	Enhancers	HepG2	liver
19	chr14:70394400-70396000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:70394600-70395000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:70394600-70395000	Enhancers	NH-A	brain
22	chr14:70394600-70395200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:70394600-70395400	Flanking Active TSS	Osteobl	bone
24	chr14:70394800-70395000	Enhancers	Brain Hippocampus Middle	brain
25	chr14:70394800-70398400	Weak transcription	Brain Germinal Matrix	brain
26	chr14:70394800-70398600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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