Variant report

Variant	rs61336072
Chromosome Location	chr1:211742398-211742399
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211741510..211743942-chr1:211802313..211805190,2	K562	blood:
2	chr1:211710767..211712862-chr1:211741822..211743757,2	MCF-7	breast:
3	chr1:211733190..211735497-chr1:211740773..211743674,2	K562	blood:
4	chr1:211738614..211743299-chr1:211744203..211747378,6	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11553543	0.84[AFR][1000 genomes]
rs12091351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562288	0.96[AFR][1000 genomes]
rs17017761	0.99[AFR][1000 genomes]
rs17838268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278652	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738198	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60420078	0.82[ASN][1000 genomes]
rs61632665	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6676167	0.81[ASN][1000 genomes]
rs73073202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73075103	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075106	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73075115	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075131	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7515127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530862	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531277	0.97[AFR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211733800-211744800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
3	chr1:211738800-211743800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:211738800-211746000	Weak transcription	HepG2	liver
5	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:211740200-211745800	Weak transcription	Hela-S3	cervix
7	chr1:211740400-211745400	Weak transcription	Liver	Liver
8	chr1:211741400-211744800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:211741400-211745200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:211741400-211747400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:211741400-211747400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:211741600-211744800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:211741600-211747400	Weak transcription	K562	blood
14	chr1:211741800-211743800	Weak transcription	GM12878-XiMat	blood
15	chr1:211741800-211746600	Weak transcription	NH-A	brain
16	chr1:211742200-211745400	Weak transcription	Osteobl	bone
17	chr1:211742200-211747000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle

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