Variant report

Variant	rs57594899
Chromosome Location	chr1:94585540-94585541
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	chr1:94532251..94537168-chr1:94582958..94586481,4	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10128049	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28437771	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28706746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72960501	0.83[EUR][1000 genomes]
rs74102103	1.00[EUR][1000 genomes]
rs74102104	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74102105	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74104524	0.83[EUR][1000 genomes]
rs74104526	1.00[EUR][1000 genomes]
rs74104531	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7548816	1.00[AFR][1000 genomes];1.00[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94580200-94587600	Enhancers	Placenta	Placenta
3	chr1:94580400-94587600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94581400-94587600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:94581600-94586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:94581600-94588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:94582000-94585600	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:94582200-94587400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:94583000-94585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:94583000-94591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:94583200-94585600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:94583200-94585600	Enhancers	HepG2	liver
14	chr1:94583200-94586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:94583600-94587600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:94583600-94587600	Enhancers	Fetal Kidney	kidney
17	chr1:94584000-94587600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:94584200-94587000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:94584400-94587400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:94584800-94585600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:94584800-94586200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:94584800-94586200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:94584800-94586200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:94584800-94587600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:94585000-94586200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:94585000-94586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:94585000-94586400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:94585000-94587000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:94585000-94587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:94585200-94585600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:94585200-94586000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:94585200-94586200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:94585200-94586400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:94585400-94585600	Enhancers	Fetal Heart	heart
35	chr1:94585400-94586000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:94585400-94586000	Enhancers	Brain Anterior Caudate	brain
37	chr1:94585400-94586000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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