Variant report

Variant	rs710141
Chromosome Location	chr1:192923730-192923731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10754036	0.82[EUR][1000 genomes]
rs10801165	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921296	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921298	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921299	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11507871	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11507872	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12132131	0.82[EUR][1000 genomes]
rs12138298	0.82[EUR][1000 genomes]
rs1339591	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1339593	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1615218	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1769054	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2066216	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2486496	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28461227	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35686688	0.87[AMR][1000 genomes]
rs6428143	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680068	0.81[EUR][1000 genomes]
rs6700102	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6700111	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6701258	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs710140	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738564	0.82[EUR][1000 genomes]
rs72738565	0.82[EUR][1000 genomes]
rs72738576	0.90[EUR][1000 genomes]
rs72738577	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738582	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7512163	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7512241	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513985	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7547423	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842793	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842794	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842802	1.00[CEU][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842805	0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs842812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842815	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs844528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9427824	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427825	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs946557	0.93[AMR][1000 genomes];1.00[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192917600-192927800	Weak transcription	Left Ventricle	heart
3	chr1:192920600-192925200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:192922200-192925000	Weak transcription	NH-A	brain
5	chr1:192922200-192928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:192922200-192928000	Weak transcription	HSMM	muscle
7	chr1:192922400-192923800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:192922400-192925200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:192922400-192925200	Weak transcription	Osteobl	bone
10	chr1:192922400-192927600	Weak transcription	NHDF-Ad	bronchial
11	chr1:192922400-192927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:192922400-192927800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:192922600-192925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:192923400-192931600	Weak transcription	Primary T cells from cord blood	blood
16	chr1:192923600-192924000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:192923600-192924800	Enhancers	Monocytes-CD14+_RO01746	blood

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