Variant report

Variant	rs1007695
Chromosome Location	chr14:70392292-70392293
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17174862	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs227429	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs227430	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7155412	1.00[JPT][hapmap];0.85[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:22 , 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	chr14:70391000-70392800	Weak transcription	Liver	Liver
9	chr14:70391000-70393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70391000-70397400	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70391200-70392400	Weak transcription	Hela-S3	cervix
12	chr14:70391200-70394600	Weak transcription	NH-A	brain
13	chr14:70391400-70393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:70391400-70393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70391400-70393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70391400-70393400	Weak transcription	Placenta	Placenta
17	chr14:70391400-70394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70391400-70394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:70391400-70394600	Weak transcription	Osteobl	bone
20	chr14:70391800-70395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:70392000-70393400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:70392000-70396800	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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