Variant report

Variant	rs4147805
Chromosome Location	chr1:94582120-94582121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94526939..94529383-chr1:94580613..94583165,2	MCF-7	breast:
2	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
3	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11805421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391371	0.95[ASN][1000 genomes]
rs28482008	0.94[ASN][1000 genomes]
rs3789441	0.99[ASN][1000 genomes]
rs3789448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789450	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56931023	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61209856	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72962326	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

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	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
4	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:94575800-94583000	Weak transcription	Left Ventricle	heart
6	chr1:94579200-94582400	Weak transcription	Fetal Heart	heart
7	chr1:94580200-94587600	Enhancers	Placenta	Placenta
8	chr1:94580400-94587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:94580600-94583400	Enhancers	Fetal Kidney	kidney
10	chr1:94580800-94582600	Weak transcription	Fetal Lung	lung
11	chr1:94581000-94585200	Enhancers	Ovary	ovary
12	chr1:94581200-94582200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94581200-94583000	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:94581200-94583200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:94581200-94584200	Enhancers	NHDF-Ad	bronchial
16	chr1:94581200-94584400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:94581400-94583000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr1:94581400-94583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:94581400-94583600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:94581400-94583800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:94581400-94584200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:94581400-94585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:94581400-94587600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:94581600-94582200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:94581600-94582600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr1:94581600-94582800	Enhancers	Fetal Brain Male	brain
28	chr1:94581600-94582800	Enhancers	Osteobl	bone
29	chr1:94581600-94583200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:94581600-94583600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:94581600-94583600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:94581600-94583800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:94581600-94585000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:94581600-94586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:94581600-94588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:94581800-94582400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr1:94581800-94582800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:94581800-94582800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:94581800-94582800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:94581800-94583000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr1:94581800-94583000	Weak transcription	Spleen	Spleen
42	chr1:94581800-94583400	Enhancers	Adipose Nuclei	Adipose
43	chr1:94582000-94582200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:94582000-94582200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr1:94582000-94582200	Enhancers	Liver	Liver
46	chr1:94582000-94582200	Enhancers	Lung	lung
47	chr1:94582000-94582200	Enhancers	NH-A	brain
48	chr1:94582000-94582600	Enhancers	HepG2	liver
49	chr1:94582000-94583000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:94582000-94583000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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