Variant report

Variant	rs554893473
Chromosome Location	chr14:70349358-70349359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70345017..70347390-chr14:70347953..70350433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198732	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv976351	chr14:70349344-70353065	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70345800-70349400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70346000-70349600	Active TSS	Fetal Brain Female	brain
3	chr14:70347200-70349600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr14:70347400-70349400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:70347400-70349800	Enhancers	Fetal Stomach	stomach
6	chr14:70348000-70354200	Weak transcription	Psoas Muscle	Psoas
7	chr14:70348200-70349400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:70348200-70349400	Flanking Active TSS	Hela-S3	cervix
9	chr14:70348400-70353400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70348600-70349400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr14:70348600-70349400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr14:70348600-70349600	Enhancers	Fetal Brain Male	brain
13	chr14:70348600-70350600	Enhancers	Liver	Liver
14	chr14:70348800-70349600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:70349000-70349400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70349000-70349400	Enhancers	Fetal Muscle Trunk	muscle
17	chr14:70349000-70349600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70349000-70349600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:70349000-70349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:70349000-70353000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:70349200-70349400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:70349200-70349400	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:70349200-70349400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:70349200-70349600	Flanking Active TSS	HepG2	liver
25	chr14:70349200-70353000	Weak transcription	Brain Cingulate Gyrus	brain

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