Variant report

Variant	rs2911603
Chromosome Location	chr1:85070877-85070878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84886211..84887078-chr1:85070133..85071055,2	K562	blood:
2	chr1:84907597..84908564-chr1:85069976..85070920,6	K562	blood:
3	chr1:85038959..85041198-chr1:85070414..85071999,2	K562	blood:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1417295	0.96[ASN][1000 genomes]
rs1850508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1850509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2007454	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911590	0.96[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2911595	0.86[EUR][1000 genomes]
rs2911598	0.81[CHB][hapmap]
rs2911604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911607	0.96[ASN][1000 genomes]
rs2911609	0.96[ASN][1000 genomes]
rs2943663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943669	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2943670	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2943675	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2943676	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2943677	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943678	0.86[EUR][1000 genomes]
rs2945138	0.86[JPT][hapmap]
rs2945140	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945146	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945148	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945149	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945150	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945152	0.96[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945155	0.87[EUR][1000 genomes]
rs2945158	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945160	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2994435	0.96[ASN][1000 genomes]
rs2994934	0.96[ASN][1000 genomes]
rs2994935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2994940	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994944	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994946	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994947	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6576713	0.80[GIH][hapmap];0.86[MEX][hapmap]
rs880412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][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	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
2	esv3364770	chr1:85069339-85078334	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2911603	CTBS	cis	multi-tissue	Pritchard
rs2911603	BCL10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85069600-85077400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:85070200-85071200	ZNF genes & repeats	Brain Anterior Caudate	brain
3	chr1:85070200-85071400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
4	chr1:85070200-85072000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85070200-85077400	Weak transcription	Fetal Heart	heart
6	chr1:85070400-85071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:85070400-85071000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:85070400-85071000	Enhancers	K562	blood
9	chr1:85070400-85071200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr1:85070400-85071600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:85070400-85072000	ZNF genes & repeats	Liver	Liver
12	chr1:85070400-85079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:85070600-85071000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:85070600-85071200	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:85070600-85071200	Enhancers	Hela-S3	cervix
17	chr1:85070600-85071600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:85070600-85071800	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr1:85070800-85071000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:85070800-85071200	Enhancers	Colon Smooth Muscle	Colon
21	chr1:85070800-85072000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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