Variant report

Variant	rs72619147
Chromosome Location	chr4:18693351-18693352
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28671154	1.00[EUR][1000 genomes]
rs56814746	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58948052	1.00[EUR][1000 genomes]
rs60985533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72619143	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72619145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72619146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72619148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv878722	chr4:18668957-18741988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18688000-18697600	Weak transcription	Gastric	stomach
2	chr4:18690800-18693600	Enhancers	Fetal Kidney	kidney
3	chr4:18691200-18693600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:18691200-18693800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:18691200-18693800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:18691200-18694000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:18691200-18694000	Enhancers	Fetal Lung	lung
8	chr4:18691400-18694200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:18691600-18693600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:18692200-18693400	Enhancers	Brain Hippocampus Middle	brain
11	chr4:18692400-18693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:18692400-18695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:18692600-18693600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:18692800-18693400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:18692800-18693400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:18692800-18695600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:18693000-18693400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:18693000-18693400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:18693000-18693400	Weak transcription	Brain Germinal Matrix	brain
20	chr4:18693000-18693600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:18693000-18693800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:18693000-18693800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:18693000-18693800	Enhancers	Placenta	Placenta
24	chr4:18693000-18695800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:18693200-18693400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:18693200-18693600	Enhancers	HepG2	liver
27	chr4:18693200-18693800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:18693200-18694000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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