Variant report

Variant	rs530123333
Chromosome Location	chr1:94579666-94579667
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	chr1:94573713..94576246-chr1:94579221..94581547,2	MCF-7	breast:
2	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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:38 , 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	chr1:94571800-94581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:94574600-94579800	Enhancers	Placenta	Placenta
6	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:94575800-94583000	Weak transcription	Left Ventricle	heart
8	chr1:94576400-94581800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:94576800-94582000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:94577000-94581200	Weak transcription	Liver	Liver
11	chr1:94577000-94581200	Weak transcription	Spleen	Spleen
12	chr1:94577200-94582000	Weak transcription	Lung	lung
13	chr1:94577400-94581400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:94577600-94581200	Enhancers	HepG2	liver
15	chr1:94577600-94582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:94578400-94579800	Enhancers	Fetal Brain Male	brain
17	chr1:94578400-94581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:94578600-94579800	Enhancers	Fetal Kidney	kidney
19	chr1:94578600-94580000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr1:94578800-94579800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr1:94578800-94580000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr1:94579000-94579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:94579000-94579800	Enhancers	Fetal Muscle Leg	muscle
24	chr1:94579000-94580000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr1:94579000-94580000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:94579000-94580000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:94579200-94579800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:94579200-94582400	Weak transcription	Fetal Heart	heart
29	chr1:94579400-94579800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:94579600-94579800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:94579600-94579800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr1:94579600-94580400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:94579600-94580400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:94579600-94581000	Weak transcription	Ovary	ovary
35	chr1:94579600-94581400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:94579600-94581600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:94579600-94581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:94579600-94581600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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