Variant report

Variant	rs11164930
Chromosome Location	chr1:93908790-93908791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93903697..93905547-chr1:93907055..93909310,2	MCF-7	breast:
2	chr1:93906923..93909332-chr1:93912549..93915542,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1079750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs11164926	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11164932	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11164940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811006	0.90[EUR][1000 genomes]
rs12060221	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12062584	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069440	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12086857	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096122	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12096561	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12409932	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12410123	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1582773	0.90[EUR][1000 genomes]
rs17109951	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17109997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17131741	1.00[CEU][hapmap]
rs17387059	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1895903	0.90[EUR][1000 genomes]
rs2011212	0.93[EUR][1000 genomes]
rs2081568	0.94[EUR][1000 genomes]
rs2624437	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3088371	0.87[CEU][hapmap]
rs57710451	0.93[EUR][1000 genomes]
rs59792151	0.93[EUR][1000 genomes]
rs60822733	1.00[ASN][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61580948	0.93[EUR][1000 genomes]
rs6688111	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67012296	0.93[EUR][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72721009	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721010	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721014	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721019	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961351	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7339890	0.93[EUR][1000 genomes]
rs7539210	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7541984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7553695	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs900310	0.93[EUR][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:29 , 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	chr1:93904200-93912200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:93906400-93912000	Weak transcription	HepG2	liver
6	chr1:93907200-93909400	Enhancers	Hela-S3	cervix
7	chr1:93907200-93909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:93907800-93908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:93907800-93908800	Enhancers	NHEK	skin
10	chr1:93908200-93912400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:93908200-93912400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:93908200-93912400	Weak transcription	Pancreas	Pancrea
13	chr1:93908200-93912400	Weak transcription	HMEC	breast
14	chr1:93908400-93908800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:93908400-93909400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:93908400-93909600	Enhancers	A549	lung
17	chr1:93908400-93910000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:93908400-93911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:93908400-93912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:93908400-93912400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:93908600-93909200	Weak transcription	Stomach Mucosa	stomach
22	chr1:93908600-93912000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:93908600-93912000	Weak transcription	K562	blood
24	chr1:93908600-93912200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:93908600-93912200	Weak transcription	Fetal Intestine Large	intestine
26	chr1:93908600-93912400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:93908600-93912400	Weak transcription	Fetal Intestine Small	intestine
28	chr1:93908600-93912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:93908600-93912800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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