Variant report

Variant	rs73259525
Chromosome Location	chr20:11250887-11250888
allele	A/G
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	SPI1	chr20:11250725-11251016	GM12891	blood:	n/a	n/a
2	WRNIP1	chr20:11250852-11251051	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:10652090..10655937-chr20:11248830..11252112,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230990	TF binding region
ENSG00000270792	Chromatin interaction
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]
rs11698237	1.00[AMR][1000 genomes]
rs2207115	1.00[AMR][1000 genomes]
rs57336143	1.00[AMR][1000 genomes]
rs58524115	1.00[AMR][1000 genomes]
rs58755628	1.00[AMR][1000 genomes]
rs60852377	1.00[AMR][1000 genomes]
rs6108971	1.00[AMR][1000 genomes]
rs6108972	1.00[AMR][1000 genomes]
rs6108973	1.00[AMR][1000 genomes]
rs6108984	1.00[AMR][1000 genomes]
rs6108987	1.00[AMR][1000 genomes]
rs6108991	1.00[AMR][1000 genomes]
rs61136676	1.00[AMR][1000 genomes]
rs7267502	1.00[AMR][1000 genomes]
rs73896349	1.00[AMR][1000 genomes]
rs73896362	1.00[AMR][1000 genomes]
rs73896367	1.00[AMR][1000 genomes]
rs73896368	1.00[AMR][1000 genomes]
rs73896370	1.00[AMR][1000 genomes]
rs73896387	1.00[AMR][1000 genomes]
rs73896399	1.00[AMR][1000 genomes]
rs73896400	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:43 , 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	chr20:11247400-11253000	Weak transcription	Brain Germinal Matrix	brain
3	chr20:11247600-11251000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:11248400-11253000	Weak transcription	Fetal Lung	lung
5	chr20:11248600-11251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr20:11248600-11251400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:11248600-11251400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr20:11248800-11251000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr20:11248800-11251000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr20:11248800-11251000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:11248800-11251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:11248800-11251200	Weak transcription	Adipose Nuclei	Adipose
13	chr20:11248800-11251400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:11248800-11252000	Weak transcription	Fetal Muscle Leg	muscle
15	chr20:11248800-11252200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:11248800-11253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:11248800-11255000	Weak transcription	Fetal Intestine Small	intestine
18	chr20:11249000-11251000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr20:11249000-11251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:11249000-11251000	Weak transcription	Fetal Kidney	kidney
21	chr20:11249000-11252000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr20:11249000-11252200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:11249000-11252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:11249000-11254400	Weak transcription	Brain Angular Gyrus	brain
25	chr20:11249200-11251000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr20:11249200-11251400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:11249200-11252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:11249200-11254000	Weak transcription	Brain Hippocampus Middle	brain
29	chr20:11249600-11251600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:11250000-11251400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:11250600-11251800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:11250800-11251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:11250800-11251000	Enhancers	Esophagus	oesophagus
34	chr20:11250800-11251800	Enhancers	NHEK	skin
35	chr20:11250800-11252000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:11250800-11252200	Enhancers	HMEC	breast
37	chr20:11250800-11252600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr20:11250800-11252600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:11250800-11253000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:11250800-11253000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:11250800-11253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:11250800-11255200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr20:11250800-11255600	Enhancers	A549	lung

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