Variant report

Variant	rs359896
Chromosome Location	chr2:185465575-185465576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185463901..185466082-chr2:185467270..185470429,3	K562	blood:
2	chr2:185464303..185465833-chr5:137804614..137806715,2	K562	blood:
3	chr2:185458983..185461957-chr2:185463793..185466566,3	K562	blood:
4	chr2:185453309..185455260-chr2:185463848..185465666,2	K562	blood:
5	chr2:185462858..185464439-chr2:185464448..185466068,2	K562	blood:

Variant related genes	Relation type
ENSG00000170396	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs359893	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs359894	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs359903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs359904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs415350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461200-185466200	Active TSS	NHLF	lung
2	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
4	chr2:185461800-185466000	Active TSS	Fetal Stomach	stomach
5	chr2:185462000-185466000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:185462600-185466200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:185463800-185466000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:185463800-185466800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:185464400-185465800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:185464400-185465800	Active TSS	Brain Germinal Matrix	brain
11	chr2:185464600-185465800	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:185464600-185465800	Active TSS	Fetal Intestine Large	intestine
13	chr2:185464800-185465600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:185464800-185465600	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:185464800-185465800	Active TSS	NH-A	brain
16	chr2:185464800-185466000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:185465000-185465800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:185465200-185465600	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr2:185465400-185465600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:185465400-185465800	Flanking Active TSS	Fetal Brain Male	brain
21	chr2:185465400-185466200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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