Variant report

Variant	rs1299968
Chromosome Location	chr14:70376712-70376713
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	chr14:70376176..70378536-chr14:70378709..70380533,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275842	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1275843	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275845	1.00[ASN][1000 genomes]
rs1275846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275848	1.00[ASN][1000 genomes]
rs1290043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295832	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1296571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952203	1.00[ASN][1000 genomes]
rs2766463	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4899320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv523796	chr14:70374122-70386743	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70364000-70387600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:70368600-70377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70368800-70379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:70368800-70379600	Weak transcription	Liver	Liver
5	chr14:70371400-70377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:70371400-70377200	Weak transcription	HepG2	liver
7	chr14:70372000-70388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70372400-70382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70373200-70377000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:70373600-70383600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:70375200-70378200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:70375200-70378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:70375200-70378400	Enhancers	Brain Substantia Nigra	brain
14	chr14:70375400-70378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70375600-70377400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:70375800-70378400	Enhancers	Brain Hippocampus Middle	brain
17	chr14:70376200-70377400	Enhancers	Fetal Brain Male	brain
18	chr14:70376400-70377800	Enhancers	Fetal Brain Female	brain
19	chr14:70376400-70378000	Enhancers	Brain Anterior Caudate	brain
20	chr14:70376400-70378000	Strong transcription	Hela-S3	cervix
21	chr14:70376600-70377800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:70376600-70378200	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:70376600-70378400	Enhancers	Brain Inferior Temporal Lobe	brain

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