Variant report

Variant	rs12480182
Chromosome Location	chr20:11332562-11332563
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	chr20:11330194..11333067-chr20:11363546..11365974,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11905486	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11906214	0.95[ASN][1000 genomes]
rs11907452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11908191	0.81[ASN][1000 genomes]
rs12480424	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12480631	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12481555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57261719	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59917750	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6033111	1.00[ASN][1000 genomes]
rs6074269	0.81[ASN][1000 genomes]
rs6074270	0.81[ASN][1000 genomes]
rs73243912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73243938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261510	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73261514	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73261517	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261522	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7345151	1.00[ASN][1000 genomes]
rs8118110	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11330400-11332600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr20:11330600-11333400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:11330600-11334400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:11330800-11333200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:11330800-11333600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:11330800-11334200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:11330800-11336200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:11331000-11333000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:11331000-11338400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr20:11331200-11332800	Enhancers	Fetal Intestine Small	intestine
11	chr20:11331200-11333200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:11331200-11333800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:11331400-11333400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:11331600-11333000	Weak transcription	Fetal Lung	lung
15	chr20:11331800-11333200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:11331800-11333400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr20:11332000-11333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:11332000-11333200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr20:11332000-11333400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:11332200-11332600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr20:11332200-11332600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr20:11332200-11333000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:11332200-11333000	Enhancers	Brain Germinal Matrix	brain
24	chr20:11332200-11334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:11332400-11334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:11332400-11334800	Weak transcription	HMEC	breast
27	chr20:11332400-11336200	Weak transcription	Psoas Muscle	Psoas
28	chr20:11332400-11337400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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