Variant report

Variant	rs2063462
Chromosome Location	chr5:90486657-90486658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90485851..90488119-chr5:90679026..90681033,2	MCF-7	breast:
2	chr5:90484912..90486723-chr5:90678021..90680709,2	MCF-7	breast:
3	chr5:90486302..90488614-chr5:90490466..90493955,3	K562	blood:
4	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	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12655796	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16869554	0.82[EUR][1000 genomes]
rs16869562	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs16869564	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57437843	0.82[EUR][1000 genomes]
rs57778265	0.80[EUR][1000 genomes]
rs61156097	0.82[EUR][1000 genomes]
rs73773320	0.92[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90480200-90487000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:90485200-90487000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:90485400-90486800	Enhancers	Placenta	Placenta
4	chr5:90485400-90487000	Enhancers	Small Intestine	intestine
5	chr5:90485600-90486800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:90485600-90486800	Enhancers	Fetal Intestine Small	intestine
7	chr5:90485800-90486800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:90485800-90486800	Enhancers	Lung	lung
9	chr5:90486000-90487600	Enhancers	NHLF	lung
10	chr5:90486200-90486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:90486200-90486800	Enhancers	NH-A	brain
12	chr5:90486200-90487000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:90486200-90487000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:90486200-90487600	Enhancers	Colon Smooth Muscle	Colon
15	chr5:90486200-90487800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:90486400-90486800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:90486400-90486800	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:90486400-90486800	Enhancers	Osteobl	bone
19	chr5:90486400-90487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:90486400-90487000	Enhancers	Adipose Nuclei	Adipose
21	chr5:90486400-90487200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:90486400-90487600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:90486400-90487800	Enhancers	NHDF-Ad	bronchial
24	chr5:90486400-90488400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:90486400-90489400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:90486400-90490400	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:90486400-90490400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:90486400-90490800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:90486600-90486800	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:90486600-90486800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:90486600-90487000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:90486600-90490200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:90486600-90490400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:90486600-90491400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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