Variant report

Variant	rs8125963
Chromosome Location	chr20:11254224-11254225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:11252833-11255571	A549	lung:	n/a	chr20:11254895-11254916 chr20:11254901-11254917 chr20:11254900-11254918

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:10652412..10655636-chr20:11252781..11255204,3	MCF-7	breast:
2	chr20:10652886..10654670-chr20:11251547..11255008,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230990	TF binding region
ENSG00000270792	Chromatin interaction
ENSG00000101384	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35457466	1.00[AMR][1000 genomes]
rs6040401	1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11248800-11255000	Weak transcription	Fetal Intestine Small	intestine
2	chr20:11249000-11254400	Weak transcription	Brain Angular Gyrus	brain
3	chr20:11250800-11255200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:11250800-11255600	Enhancers	A549	lung
5	chr20:11251000-11255800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:11251400-11255200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:11251600-11255200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:11251800-11255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:11252200-11254400	Weak transcription	HMEC	breast
10	chr20:11252800-11254600	Weak transcription	Adipose Nuclei	Adipose
11	chr20:11253000-11254600	Weak transcription	HSMM	muscle
12	chr20:11253000-11255800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:11253200-11254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:11253400-11254400	Weak transcription	Fetal Brain Female	brain
15	chr20:11253600-11254600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:11253600-11254600	Weak transcription	Fetal Lung	lung
17	chr20:11253600-11255200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:11253600-11257400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:11253800-11255200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:11253800-11255600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:11254000-11254800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr20:11254000-11254800	Enhancers	Brain Hippocampus Middle	brain
23	chr20:11254000-11255200	Enhancers	Fetal Brain Male	brain
24	chr20:11254000-11255200	Enhancers	Fetal Kidney	kidney
25	chr20:11254000-11255400	Enhancers	NHEK	skin
26	chr20:11254200-11254400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr20:11254200-11254400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr20:11254200-11254400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:11254200-11254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:11254200-11254600	Enhancers	Duodenum Mucosa	Duodenum
31	chr20:11254200-11254800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr20:11254200-11254800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr20:11254200-11254800	Enhancers	Brain Germinal Matrix	brain
34	chr20:11254200-11255200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr20:11254200-11255200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr20:11254200-11255200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:11254200-11255800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr20:11254200-11255800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr20:11254200-11255800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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