Variant report

Variant	rs17348530
Chromosome Location	chr5:106912995-106912996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106911216..106913509-chr5:107005819..107007430,2	MCF-7	breast:
2	chr5:106907050..106909866-chr5:106911029..106913761,2	K562	blood:
3	chr5:106907968..106909615-chr5:106911499..106913805,2	MCF-7	breast:
4	chr5:106911881..106914239-chr5:106916867..106919606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184349	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10045552	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10061771	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10479400	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10479401	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12153493	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12719573	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1990993	0.82[AMR][1000 genomes]
rs34052514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34273069	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34950197	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35433400	0.93[ASN][1000 genomes]
rs3844311	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs597083	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685820	0.85[ASN][1000 genomes]
rs6894162	0.94[AMR][1000 genomes];0.94[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:48 , 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	chr5:106907800-106913400	Weak transcription	Right Ventricle	heart
3	chr5:106907800-106914000	Enhancers	Fetal Heart	heart
4	chr5:106908200-106913800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:106908200-106916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:106908400-106913800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:106908600-106913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:106908800-106917000	Weak transcription	HSMM	muscle
9	chr5:106908800-106917600	Enhancers	A549	lung
10	chr5:106909000-106913200	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:106909000-106913800	Weak transcription	NHDF-Ad	bronchial
12	chr5:106909000-106914000	Weak transcription	Left Ventricle	heart
13	chr5:106909000-106914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:106909000-106917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:106909600-106913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:106910200-106914000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:106910400-106914000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:106911000-106913000	Enhancers	GM12878-XiMat	blood
19	chr5:106911000-106913400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:106911000-106914200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:106911000-106914400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:106911000-106914800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:106911400-106913600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:106911400-106914200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:106911400-106915200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:106911400-106915600	Enhancers	Fetal Lung	lung
27	chr5:106911600-106914000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:106911600-106914600	Enhancers	HMEC	breast
29	chr5:106911800-106914000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:106911800-106914800	Enhancers	NHEK	skin
31	chr5:106911800-106915000	Enhancers	Adipose Nuclei	Adipose
32	chr5:106912000-106913200	Weak transcription	Fetal Kidney	kidney
33	chr5:106912000-106914000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:106912000-106914600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:106912000-106914600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:106912200-106913800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:106912200-106916600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:106912200-106917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:106912400-106913400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:106912400-106913600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:106912600-106913000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:106912600-106913000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:106912600-106913200	Enhancers	Placenta	Placenta
44	chr5:106912600-106913800	Enhancers	Fetal Stomach	stomach
45	chr5:106912800-106913600	Enhancers	Right Atrium	heart
46	chr5:106912800-106914000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:106912800-106914000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:106912800-106914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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