Variant report

Variant	rs4813975
Chromosome Location	chr20:11242478-11242479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:10653814..10656504-chr20:11241150..11243933,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101384	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1473701	0.83[AMR][1000 genomes]
rs1473702	0.82[AMR][1000 genomes]
rs1473703	0.82[AMR][1000 genomes]
rs4239705	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643605	0.82[AMR][1000 genomes]
rs4813969	0.83[AMR][1000 genomes]
rs4813971	0.83[AMR][1000 genomes]
rs4813974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033068	0.81[AMR][1000 genomes]
rs6040464	0.83[AMR][1000 genomes]
rs6040465	0.82[AMR][1000 genomes]
rs6040466	0.83[AMR][1000 genomes]
rs6040469	0.83[AMR][1000 genomes]
rs6040471	0.84[AMR][1000 genomes]
rs6040480	0.82[AMR][1000 genomes]
rs6040481	0.87[AMR][1000 genomes]
rs6040482	0.80[AMR][1000 genomes]
rs6040487	0.82[AMR][1000 genomes]
rs6040489	0.81[AMR][1000 genomes]
rs6040490	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6078109	0.84[AMR][1000 genomes]
rs6108882	0.82[AMR][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv3292	chr20:11233247-11267986	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11235600-11251200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr20:11241000-11243000	Enhancers	HMEC	breast
3	chr20:11241000-11243000	Enhancers	NH-A	brain
4	chr20:11241200-11243000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:11241200-11243200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:11241200-11247200	Weak transcription	Stomach Mucosa	stomach
7	chr20:11241600-11243000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:11241600-11243000	Enhancers	A549	lung
9	chr20:11241600-11243200	Enhancers	Osteobl	bone
10	chr20:11241800-11243000	Enhancers	HSMM	muscle
11	chr20:11241800-11243200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:11241800-11243200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:11242000-11242600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:11242000-11242600	Enhancers	Pancreas	Pancrea
15	chr20:11242000-11242600	Enhancers	GM12878-XiMat	blood
16	chr20:11242000-11242800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr20:11242000-11242800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr20:11242000-11242800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:11242000-11242800	Enhancers	NHLF	lung
20	chr20:11242000-11243000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:11242000-11243000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:11242000-11243000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:11242000-11243000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr20:11242000-11243000	Enhancers	NHDF-Ad	bronchial
25	chr20:11242000-11243600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:11242200-11242600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:11242200-11242600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:11242200-11242600	Enhancers	Esophagus	oesophagus
29	chr20:11242200-11242800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:11242200-11242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:11242200-11243000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr20:11242400-11242600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr20:11242400-11242800	Enhancers	Brain Hippocampus Middle	brain
34	chr20:11242400-11242800	Enhancers	NHEK	skin

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