Variant report

Variant	rs16869562
Chromosome Location	chr5:90485714-90485715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90484912..90486723-chr5:90678021..90680709,2	MCF-7	breast:
2	chr5:90484164..90485823-chr5:90677699..90679507,2	MCF-7	breast:
3	chr5:90485224..90486841-chr5:90487202..90489894,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514346	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12520306	0.88[MEX][hapmap]
rs12658748	0.88[MEX][hapmap]
rs16869554	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869564	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2063462	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs57437843	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57778265	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61156097	1.00[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90478600-90486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:90479800-90485800	Weak transcription	K562	blood
3	chr5:90480000-90486000	Weak transcription	Stomach Mucosa	stomach
4	chr5:90480200-90485800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:90480200-90487000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:90483400-90485800	Weak transcription	HMEC	breast
7	chr5:90485200-90485800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:90485200-90486400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:90485200-90486600	Flanking Active TSS	A549	lung
10	chr5:90485200-90487000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:90485400-90485800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:90485400-90485800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:90485400-90485800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:90485400-90485800	Enhancers	Ovary	ovary
15	chr5:90485400-90485800	Enhancers	NH-A	brain
16	chr5:90485400-90486000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:90485400-90486000	Active TSS	Right Atrium	heart
18	chr5:90485400-90486000	Active TSS	Stomach Smooth Muscle	stomach
19	chr5:90485400-90486200	Active TSS	Duodenum Mucosa	Duodenum
20	chr5:90485400-90486400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:90485400-90486400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr5:90485400-90486400	Enhancers	Esophagus	oesophagus
23	chr5:90485400-90486400	Enhancers	Fetal Muscle Leg	muscle
24	chr5:90485400-90486400	Flanking Active TSS	Osteobl	bone
25	chr5:90485400-90486600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:90485400-90486600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:90485400-90486800	Enhancers	Placenta	Placenta
28	chr5:90485400-90487000	Enhancers	Small Intestine	intestine
29	chr5:90485600-90485800	Flanking Active TSS	HSMM	muscle
30	chr5:90485600-90485800	Active TSS	HUVEC	blood vessel
31	chr5:90485600-90486000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:90485600-90486000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:90485600-90486000	Enhancers	Brain Hippocampus Middle	brain
34	chr5:90485600-90486000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr5:90485600-90486000	Active TSS	Right Ventricle	heart
36	chr5:90485600-90486000	Active TSS	NHDF-Ad	bronchial
37	chr5:90485600-90486000	Active TSS	NHLF	lung
38	chr5:90485600-90486200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:90485600-90486200	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr5:90485600-90486200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:90485600-90486200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr5:90485600-90486200	Active TSS	HSMMtube	muscle
43	chr5:90485600-90486400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:90485600-90486400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:90485600-90486400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:90485600-90486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:90485600-90486600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:90485600-90486800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:90485600-90486800	Enhancers	Fetal Intestine Small	intestine

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