Variant report

Variant	rs4147799
Chromosome Location	chr1:94584459-94584460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94564934..94567258-chr1:94582385..94584556,2	MCF-7	breast:
2	chr1:94561960..94563528-chr1:94582281..94584718,2	MCF-7	breast:
3	chr1:94532251..94537168-chr1:94582958..94586481,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11805421	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17111203	1.00[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap]
rs2391371	0.95[ASN][1000 genomes]
rs28482008	0.94[ASN][1000 genomes]
rs3789441	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3789448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147805	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147813	1.00[CEU][hapmap]
rs56931023	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61209856	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72962326	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv523430	chr1:94582249-94591481	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:94580200-94587600	Enhancers	Placenta	Placenta
4	chr1:94580400-94587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:94581000-94585200	Enhancers	Ovary	ovary
6	chr1:94581400-94585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:94581400-94587600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:94581600-94585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:94581600-94586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:94581600-94588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:94582000-94585600	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:94582200-94587400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:94582800-94584800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:94583000-94585000	Enhancers	Left Ventricle	heart
16	chr1:94583000-94585000	Enhancers	Spleen	Spleen
17	chr1:94583000-94585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:94583000-94591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94583200-94584800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:94583200-94585600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:94583200-94585600	Enhancers	HepG2	liver
22	chr1:94583200-94586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:94583600-94584600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:94583600-94587600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:94583600-94587600	Enhancers	Fetal Kidney	kidney
26	chr1:94583800-94585000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:94583800-94585200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:94584000-94584600	Enhancers	Right Ventricle	heart
29	chr1:94584000-94587600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:94584200-94585000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:94584200-94587000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:94584400-94584600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:94584400-94584800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:94584400-94585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:94584400-94587400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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