Variant report

Variant	rs60971695
Chromosome Location	chr3:43296737-43296738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43294226..43299346-chr3:43301138..43304009,5	K562	blood:
2	chr3:43286357..43288077-chr3:43294555..43297435,2	K562	blood:
3	chr3:43296454..43299346-chr3:43300698..43303972,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1317402	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320160	0.98[EUR][1000 genomes]
rs1320161	0.98[EUR][1000 genomes]
rs1320162	0.98[EUR][1000 genomes]
rs1320163	0.98[EUR][1000 genomes]
rs17075328	0.93[EUR][1000 genomes]
rs17075415	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17254504	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17254786	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17320570	0.98[EUR][1000 genomes]
rs17405916	0.87[EUR][1000 genomes]
rs1996497	0.98[EUR][1000 genomes]
rs2372350	0.98[EUR][1000 genomes]
rs2372351	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2372360	0.97[EUR][1000 genomes]
rs2372361	0.98[EUR][1000 genomes]
rs4504148	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55650554	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55836177	0.84[EUR][1000 genomes]
rs55919553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55988644	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55990908	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56032317	0.96[EUR][1000 genomes]
rs56053383	0.96[EUR][1000 genomes]
rs56291522	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56412846	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56745072	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57757985	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58504881	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60671097	0.87[AFR][1000 genomes]
rs6766079	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6767019	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6791341	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6791526	0.94[EUR][1000 genomes]
rs6796424	0.94[EUR][1000 genomes]
rs6801151	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6805108	0.98[EUR][1000 genomes]
rs6808396	0.95[EUR][1000 genomes]
rs73072908	0.98[EUR][1000 genomes]
rs73072912	0.97[EUR][1000 genomes]
rs73072920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086702	0.93[EUR][1000 genomes]
rs73088703	0.93[EUR][1000 genomes]
rs73088726	0.97[EUR][1000 genomes]
rs73088732	0.98[EUR][1000 genomes]
rs73088738	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73088748	0.97[EUR][1000 genomes]
rs73088757	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73829200	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7633546	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7634209	0.93[EUR][1000 genomes]
rs7641590	0.97[EUR][1000 genomes]
rs7646966	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:43284400-43300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43285800-43298400	Weak transcription	Left Ventricle	heart
3	chr3:43289800-43297400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:43290400-43299400	Weak transcription	Right Atrium	heart
5	chr3:43290800-43300800	Weak transcription	Brain Anterior Caudate	brain
6	chr3:43294200-43300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:43296200-43297800	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:43296200-43300600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:43296400-43298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43296400-43298800	Enhancers	Lung	lung
11	chr3:43296400-43300000	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:43296400-43300400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:43296600-43296800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr3:43296600-43296800	Enhancers	Spleen	Spleen
16	chr3:43296600-43297400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:43296600-43299600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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