Variant report

Variant	rs957662
Chromosome Location	chr5:106915274-106915275
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	chr5:106914216..106916170-chr5:106926052..106928145,2	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]
rs10043284	1.00[ASN][1000 genomes]
rs10043302	1.00[ASN][1000 genomes]
rs10044934	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515374	1.00[ASN][1000 genomes]
rs12110095	1.00[ASN][1000 genomes]
rs12514246	1.00[ASN][1000 genomes]
rs12515248	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12519552	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519591	1.00[ASN][1000 genomes]
rs12520660	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522223	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160227	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58880008	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58882389	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6881619	1.00[ASN][1000 genomes]
rs6888194	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895165	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs755966	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726649	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732162	1.00[ASN][1000 genomes]
rs9328006	0.89[AMR][1000 genomes];0.99[EUR][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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:106899400-106915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:106908200-106916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:106908800-106917000	Weak transcription	HSMM	muscle
4	chr5:106908800-106917600	Enhancers	A549	lung
5	chr5:106909000-106917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:106911400-106915600	Enhancers	Fetal Lung	lung
7	chr5:106912200-106916600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:106912200-106917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:106913400-106916800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:106913600-106916800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:106913600-106917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:106913600-106917200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:106913600-106928800	Weak transcription	Right Ventricle	heart
14	chr5:106913800-106916600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:106913800-106916800	Weak transcription	Fetal Stomach	stomach
16	chr5:106913800-106917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:106913800-106924000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:106914000-106916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:106914000-106916800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:106914000-106916800	Weak transcription	Fetal Heart	heart
21	chr5:106914000-106917000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:106914000-106917200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:106914000-106924800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:106914200-106917000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:106914200-106924000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:106914400-106915600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:106914400-106916400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:106914600-106915400	Enhancers	Fetal Kidney	kidney
29	chr5:106914600-106916400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:106914600-106916600	Weak transcription	HMEC	breast
31	chr5:106914600-106916600	Weak transcription	Osteobl	bone
32	chr5:106914600-106919200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:106914800-106916400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:106914800-106916800	Weak transcription	NHEK	skin
35	chr5:106914800-106928200	Weak transcription	Left Ventricle	heart
36	chr5:106915000-106916400	Weak transcription	NHDF-Ad	bronchial
37	chr5:106915000-106916800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:106915000-106916800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:106915000-106917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:106915000-106917000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:106915000-106917000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:106915000-106917000	Weak transcription	GM12878-XiMat	blood
43	chr5:106915200-106929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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