Variant report

Variant	rs2945140
Chromosome Location	chr1:85080835-85080836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85078939..85082218-chr1:85082659..85086975,4	K562	blood:
2	chr1:85076342..85078596-chr1:85080443..85082474,2	K562	blood:

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

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

rs_ID	r²[population]
rs1417295	0.97[ASN][1000 genomes]
rs1850508	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850509	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007454	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911590	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2911595	0.86[EUR][1000 genomes]
rs2911603	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911604	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911607	0.97[ASN][1000 genomes]
rs2911609	0.97[ASN][1000 genomes]
rs2943663	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2943669	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2943670	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2943675	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943676	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2943677	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943678	0.86[EUR][1000 genomes]
rs2945138	0.80[ASN][1000 genomes]
rs2945142	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945146	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945148	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945149	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945150	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945152	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945155	0.87[EUR][1000 genomes]
rs2945158	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945160	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994435	0.97[ASN][1000 genomes]
rs2994934	0.97[ASN][1000 genomes]
rs2994935	0.96[ASN][1000 genomes]
rs2994940	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994943	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994944	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994946	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994947	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs880412	0.98[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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:85071600-85085000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:85071800-85084800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:85077200-85085400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:85077800-85082400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:85078000-85084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85078200-85081000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:85078400-85085200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:85078600-85082800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:85078600-85085000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:85079000-85085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85080200-85086000	Weak transcription	Pancreas	Pancrea
13	chr1:85080200-85086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:85080400-85084400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:85080400-85085600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:85080600-85082000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:85080600-85085200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:85080800-85082200	Weak transcription	K562	blood
19	chr1:85080800-85084400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:85080800-85086200	Weak transcription	H1 Cell Line	embryonic stem cell

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