Variant report

Variant	rs11241809
Chromosome Location	chr5:124823849-124823850
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	chr5:124816573..124819551-chr5:124822797..124825714,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10076405	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13187198	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1388215	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1400870	0.82[ASN][1000 genomes]
rs1826262	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1826263	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1840978	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046908	0.83[ASN][1000 genomes]
rs4407631	0.80[ASN][1000 genomes]
rs4425501	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4466164	0.80[ASN][1000 genomes]
rs4621558	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6595616	0.80[ASN][1000 genomes]
rs6862357	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6895537	0.85[ASN][1000 genomes]
rs724863	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs968759	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124821000-124824800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:124821800-124828800	Weak transcription	Aorta	Aorta
3	chr5:124822400-124824800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:124822600-124824800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:124822600-124826600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:124822600-124827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124822600-124827600	Weak transcription	Fetal Lung	lung
8	chr5:124822600-124827800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:124822600-124828800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:124822800-124833800	Weak transcription	Fetal Kidney	kidney
11	chr5:124823000-124827400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:124823200-124824800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:124823200-124824800	Weak transcription	Brain Angular Gyrus	brain
14	chr5:124823200-124827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:124823200-124827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:124823200-124827600	Weak transcription	NHEK	skin
17	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:124823200-124827800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:124823400-124824800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:124823400-124824800	Weak transcription	HSMMtube	muscle
22	chr5:124823400-124825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:124823400-124825800	Weak transcription	HSMM	muscle
24	chr5:124823400-124826200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:124823400-124826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:124823400-124827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:124823400-124827000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:124823400-124827000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:124823400-124827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:124823400-124827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:124823400-124827600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:124823400-124827800	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:124823400-124827800	Weak transcription	HMEC	breast
36	chr5:124823400-124827800	Weak transcription	Osteobl	bone
37	chr5:124823400-124832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:124823600-124827800	Weak transcription	Brain Anterior Caudate	brain
40	chr5:124823600-124828800	Weak transcription	Brain Hippocampus Middle	brain

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