Variant report

Variant	rs72727917
Chromosome Location	chr14:70348639-70348640
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	chr14:70347408..70348984-chr14:70352292..70354951,2	MCF-7	breast:
2	chr14:70345017..70347390-chr14:70347953..70350433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198732	Chromatin interaction
ENSG00000242071	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72725731	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72727904	1.00[AFR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70345800-70348800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:70345800-70349400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70346000-70349600	Active TSS	Fetal Brain Female	brain
4	chr14:70346800-70349000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:70347200-70349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:70347200-70349600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr14:70347400-70348800	Flanking Active TSS	HepG2	liver
8	chr14:70347400-70349400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70347400-70349800	Enhancers	Fetal Stomach	stomach
10	chr14:70347800-70349000	Enhancers	Brain Substantia Nigra	brain
11	chr14:70348000-70354200	Weak transcription	Psoas Muscle	Psoas
12	chr14:70348200-70348800	Active TSS	Brain Hippocampus Middle	brain
13	chr14:70348200-70348800	Bivalent Enhancer	NHEK	skin
14	chr14:70348200-70349000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:70348200-70349400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:70348200-70349400	Flanking Active TSS	Hela-S3	cervix
17	chr14:70348400-70348800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70348400-70348800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
19	chr14:70348400-70349000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70348400-70353400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:70348600-70348800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:70348600-70348800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:70348600-70348800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:70348600-70349400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr14:70348600-70349400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr14:70348600-70349600	Enhancers	Fetal Brain Male	brain
27	chr14:70348600-70350600	Enhancers	Liver	Liver

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