Variant report

Variant	rs9293563
Chromosome Location	chr5:90599185-90599186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90596993..90603089-chr5:90675309..90679333,6	MCF-7	breast:
2	chr5:90582436..90584317-chr5:90598208..90599728,2	K562	blood:
3	chr5:90589288..90591757-chr5:90597337..90600170,2	MCF-7	breast:
4	chr5:90595975..90600023-chr5:90675072..90680413,6	K562	blood:
5	chr5:90598034..90599706-chr5:90676711..90678710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10074242	0.81[YRI][hapmap]
rs10474348	0.86[AFR][1000 genomes]
rs10474349	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474350	0.94[AFR][1000 genomes]
rs12522282	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs13166594	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13185895	0.85[ASN][1000 genomes]
rs13360803	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941890	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2941892	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2973461	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2973464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2973467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs34422832	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34581109	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34736685	0.83[ASN][1000 genomes]
rs71637328	0.83[ASN][1000 genomes]
rs71637330	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71637331	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90589800-90607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90593000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:90593000-90602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:90593000-90606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:90593000-90607000	Weak transcription	Left Ventricle	heart
6	chr5:90593000-90607000	Weak transcription	HSMMtube	muscle
7	chr5:90593200-90601800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:90593200-90601800	Weak transcription	HMEC	breast
9	chr5:90594000-90601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:90597000-90599600	Enhancers	Hela-S3	cervix
11	chr5:90597800-90600600	Enhancers	Brain Anterior Caudate	brain
12	chr5:90597800-90600600	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:90597800-90602200	Weak transcription	Osteobl	bone
14	chr5:90597800-90602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:90598000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:90598000-90601200	Weak transcription	Psoas Muscle	Psoas
17	chr5:90598000-90602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:90598000-90602600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:90598000-90606800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:90598000-90607000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:90598200-90600400	Enhancers	Brain Hippocampus Middle	brain
22	chr5:90598400-90599200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:90598400-90601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:90598400-90602400	Weak transcription	Right Atrium	heart
25	chr5:90598400-90603600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:90598400-90606000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:90598800-90599200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:90598800-90599200	Strong transcription	A549	lung
29	chr5:90598800-90600000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:90598800-90601800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:90599000-90600800	Enhancers	Brain Substantia Nigra	brain
32	chr5:90599000-90601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:90599000-90601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:90599000-90601600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:90599000-90601600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:90599000-90602000	Weak transcription	NHDF-Ad	bronchial
37	chr5:90599000-90607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links