Variant report

Variant	rs12096561
Chromosome Location	chr1:93907207-93907208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93905501..93907825-chr1:94311357..94313783,2	K562	blood:
2	chr1:93903697..93905547-chr1:93907055..93909310,2	MCF-7	breast:
3	chr1:93906923..93909332-chr1:93912549..93915542,3	MCF-7	breast:
4	chr1:93899795..93902659-chr1:93905298..93908245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1079750	0.80[EUR][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs11164926	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164930	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164940	0.83[EUR][1000 genomes]
rs11811006	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062584	0.84[EUR][1000 genomes]
rs12069440	0.86[EUR][1000 genomes]
rs12086857	0.82[EUR][1000 genomes]
rs12096122	0.86[EUR][1000 genomes]
rs12409932	0.80[EUR][1000 genomes]
rs1582773	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109951	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109997	0.84[EUR][1000 genomes]
rs17387059	0.80[EUR][1000 genomes]
rs1895903	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011212	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081568	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2624437	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57710451	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59792151	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61580948	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688111	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67012296	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72721009	0.83[EUR][1000 genomes]
rs72721010	0.83[EUR][1000 genomes]
rs72721014	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72721019	0.83[EUR][1000 genomes]
rs72961351	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7339890	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539210	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541984	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553695	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900310	0.90[EUR][1000 genomes];0.91[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93901000-93912800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93901200-93912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:93901800-93912800	Weak transcription	NH-A	brain
4	chr1:93904200-93907600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:93904200-93912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:93904600-93907800	Weak transcription	NHEK	skin
7	chr1:93906200-93907800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:93906200-93907800	Weak transcription	A549	lung
9	chr1:93906400-93912000	Weak transcription	HepG2	liver
10	chr1:93907000-93908000	Enhancers	Fetal Intestine Small	intestine
11	chr1:93907200-93907600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:93907200-93908600	Enhancers	Fetal Intestine Large	intestine
13	chr1:93907200-93908600	Enhancers	Stomach Mucosa	stomach
14	chr1:93907200-93909400	Enhancers	Hela-S3	cervix
15	chr1:93907200-93909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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