Variant report

Variant	rs17422055
Chromosome Location	chr5:60705891-60705892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60704554..60708458-chr5:60711463..60715174,4	MCF-7	breast:
2	chr5:60456910..60459732-chr5:60703515..60707130,5	MCF-7	breast:
3	chr5:60626312..60629944-chr5:60702524..60707105,7	MCF-7	breast:
4	chr5:60703951..60706510-chr5:60708254..60709801,2	MCF-7	breast:
5	chr5:60627607..60631817-chr5:60701781..60706248,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10447098	0.90[CEU][hapmap];0.91[YRI][hapmap]
rs17422192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17422406	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56802710	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57430973	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58234049	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59375059	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60859415	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61325511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6449534	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7713032	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7719672	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7723653	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7732866	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60682000-60709800	Weak transcription	Left Ventricle	heart
2	chr5:60682600-60712400	Weak transcription	Esophagus	oesophagus
3	chr5:60687600-60711800	Weak transcription	Aorta	Aorta
4	chr5:60690800-60706800	Weak transcription	Gastric	stomach
5	chr5:60698000-60725400	Weak transcription	Spleen	Spleen
6	chr5:60699400-60706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:60703200-60706000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:60703400-60706000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:60703600-60706000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:60703600-60706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60703600-60706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:60703600-60706200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:60703600-60708800	Enhancers	Brain Substantia Nigra	brain
14	chr5:60704000-60706000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:60704000-60706000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:60704000-60706200	Enhancers	Placenta	Placenta
17	chr5:60704600-60706200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:60704600-60706200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:60704800-60706000	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:60704800-60706000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:60704800-60706000	Flanking Active TSS	NHEK	skin
22	chr5:60704800-60706000	Flanking Active TSS	Osteobl	bone
23	chr5:60704800-60706200	Flanking Active TSS	Hela-S3	cervix
24	chr5:60704800-60706800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:60704800-60708400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:60704800-60709800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:60704800-60709800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:60704800-60709800	Weak transcription	Pancreas	Pancrea
29	chr5:60705000-60706000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:60705000-60706000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:60705000-60706000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:60705000-60706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:60705000-60706000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr5:60705000-60706000	Enhancers	Stomach Mucosa	stomach
35	chr5:60705000-60706000	Enhancers	HepG2	liver
36	chr5:60705000-60706200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:60705000-60707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:60705000-60708200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:60705200-60706000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:60705200-60706000	Enhancers	Adipose Nuclei	Adipose
41	chr5:60705200-60706000	Enhancers	Brain Angular Gyrus	brain
42	chr5:60705200-60706000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:60705200-60706000	Enhancers	Colon Smooth Muscle	Colon
44	chr5:60705200-60706000	Enhancers	Fetal Intestine Large	intestine
45	chr5:60705200-60706000	Enhancers	Fetal Intestine Small	intestine
46	chr5:60705200-60706000	Enhancers	Fetal Kidney	kidney
47	chr5:60705200-60706000	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:60705200-60706000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:60705200-60706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:60705200-60707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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