Variant report

Variant	rs3789443
Chromosome Location	chr1:94581529-94581530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94573713..94576246-chr1:94579221..94581547,2	MCF-7	breast:
2	chr1:94526939..94529383-chr1:94580613..94583165,2	MCF-7	breast:
3	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
4	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874835	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11165076	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165079	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11165080	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11165082	0.85[ASN][1000 genomes]
rs11588391	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12025221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035820	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1931564	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1931566	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1931570	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3789439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789440	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789442	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789445	0.83[EUR][1000 genomes]
rs3827714	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147798	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147801	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147807	0.85[ASN][1000 genomes]
rs4147808	0.85[ASN][1000 genomes]
rs61784007	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61784009	0.84[AMR][1000 genomes];0.83[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:43 , 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	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
4	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:94575800-94583000	Weak transcription	Left Ventricle	heart
6	chr1:94576400-94581800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:94576800-94582000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:94577200-94582000	Weak transcription	Lung	lung
9	chr1:94577600-94582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:94578400-94581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:94579200-94582400	Weak transcription	Fetal Heart	heart
12	chr1:94579600-94581600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94579600-94581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:94579600-94581600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:94579800-94581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:94579800-94581600	Weak transcription	Fetal Brain Male	brain
17	chr1:94579800-94582000	Weak transcription	Fetal Stomach	stomach
18	chr1:94580000-94581600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:94580200-94587600	Enhancers	Placenta	Placenta
20	chr1:94580400-94587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:94580600-94583400	Enhancers	Fetal Kidney	kidney
22	chr1:94580800-94582600	Weak transcription	Fetal Lung	lung
23	chr1:94581000-94585200	Enhancers	Ovary	ovary
24	chr1:94581200-94581600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:94581200-94581600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr1:94581200-94581800	Enhancers	Liver	Liver
27	chr1:94581200-94581800	Enhancers	Spleen	Spleen
28	chr1:94581200-94582000	Flanking Active TSS	HepG2	liver
29	chr1:94581200-94582200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:94581200-94583000	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:94581200-94583200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:94581200-94584200	Enhancers	NHDF-Ad	bronchial
33	chr1:94581200-94584400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:94581400-94581600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:94581400-94581800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:94581400-94583000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr1:94581400-94583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:94581400-94583600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:94581400-94583800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:94581400-94584200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:94581400-94585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:94581400-94587600	Enhancers	Fetal Muscle Leg	muscle
43	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion

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