Variant report

Variant	rs4815183
Chromosome Location	chr20:23237371-23237372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23237248..23239097-chr20:23330610..23332850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1110402	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11697315	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11700168	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13043798	0.81[AMR][1000 genomes]
rs2185871	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2405001	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34877072	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4815186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815188	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6083070	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv458948	chr20:23234699-23292849	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv585721	chr20:23234699-23292849	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23214200-23241000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23232800-23237800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:23233000-23237600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr20:23234000-23239800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr20:23235400-23238800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23235600-23239000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23235600-23239000	Enhancers	Fetal Muscle Trunk	muscle
8	chr20:23235600-23239800	Enhancers	Fetal Muscle Leg	muscle
9	chr20:23236000-23239400	Enhancers	HSMMtube	muscle
10	chr20:23236000-23239600	Enhancers	Placenta	Placenta
11	chr20:23236000-23239800	Enhancers	HSMM	muscle
12	chr20:23236000-23240200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:23236400-23238000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:23236400-23238400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:23236400-23238600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:23236400-23238600	Enhancers	Lung	lung
17	chr20:23236400-23238600	Enhancers	HUVEC	blood vessel
18	chr20:23236400-23238800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:23236400-23239600	Enhancers	Brain Germinal Matrix	brain
20	chr20:23236400-23239600	Enhancers	Fetal Stomach	stomach
21	chr20:23236400-23239800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:23236400-23239800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr20:23236600-23237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr20:23236600-23238600	Enhancers	NH-A	brain
25	chr20:23236600-23239000	Enhancers	Left Ventricle	heart
26	chr20:23236600-23239200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:23236600-23239200	Enhancers	Fetal Lung	lung
28	chr20:23236600-23239600	Enhancers	NHLF	lung
29	chr20:23236600-23239800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:23236600-23239800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:23236600-23239800	Enhancers	Adipose Nuclei	Adipose
32	chr20:23236600-23239800	Enhancers	Right Atrium	heart
33	chr20:23236600-23239800	Enhancers	Spleen	Spleen
34	chr20:23236600-23240000	Enhancers	NHDF-Ad	bronchial
35	chr20:23236600-23240200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:23236800-23237600	Enhancers	NHEK	skin
37	chr20:23236800-23238600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr20:23236800-23239200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr20:23236800-23239800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:23237000-23237400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr20:23237000-23237600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr20:23237000-23238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr20:23237000-23239000	Enhancers	Duodenum Mucosa	Duodenum
44	chr20:23237000-23239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:23237200-23237400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr20:23237200-23238200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr20:23237200-23238400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:23237200-23239000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr20:23237200-23240200	Enhancers	Dnd41	blood

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