Variant report

Variant	rs12992411
Chromosome Location	chr2:145796032-145796033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145785797..145788281-chr2:145794965..145797267,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1006923	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206585	0.80[ASN][1000 genomes]
rs10928241	0.90[ASN][1000 genomes]
rs1125128	0.90[ASN][1000 genomes]
rs12474485	0.90[ASN][1000 genomes]
rs12476923	0.90[ASN][1000 genomes]
rs12477111	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691704	0.90[ASN][1000 genomes]
rs12995180	0.90[ASN][1000 genomes]
rs13015800	0.90[ASN][1000 genomes]
rs13384504	0.90[ASN][1000 genomes]
rs13389190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830318	0.90[ASN][1000 genomes]
rs1830320	0.90[ASN][1000 genomes]
rs1881409	0.90[ASN][1000 genomes]
rs1881410	0.90[ASN][1000 genomes]
rs2663966	0.85[ASN][1000 genomes]
rs34029033	0.90[ASN][1000 genomes]
rs34372836	0.85[ASN][1000 genomes]
rs35462154	0.90[ASN][1000 genomes]
rs35805189	0.95[ASN][1000 genomes]
rs6430076	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430078	0.85[ASN][1000 genomes]
rs6721988	0.90[ASN][1000 genomes]
rs6747171	0.90[ASN][1000 genomes]
rs6747275	0.90[ASN][1000 genomes]
rs6749506	0.90[ASN][1000 genomes]
rs7423637	0.90[ASN][1000 genomes]
rs7562803	0.90[ASN][1000 genomes]
rs7575637	0.84[AFR][1000 genomes]
rs786242	0.80[EUR][1000 genomes]
rs786244	0.90[EUR][1000 genomes]
rs787427	0.80[ASN][1000 genomes]
rs957292	0.90[ASN][1000 genomes]
rs957293	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145789200-145802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145794400-145796200	Enhancers	HSMM	muscle
3	chr2:145794600-145796200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:145794800-145796200	Enhancers	NHLF	lung
5	chr2:145794800-145796400	Enhancers	Osteobl	bone
6	chr2:145795000-145796200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:145795000-145796200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:145795000-145796400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:145795000-145799000	Weak transcription	Aorta	Aorta
10	chr2:145795200-145796200	Enhancers	Fetal Heart	heart
11	chr2:145795400-145796200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:145795400-145796200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:145795400-145796400	Enhancers	A549	lung
14	chr2:145795400-145797600	Enhancers	NHDF-Ad	bronchial
15	chr2:145795600-145796200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:145795600-145796200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:145795600-145796200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:145795600-145796200	Enhancers	Brain Germinal Matrix	brain
19	chr2:145795600-145796200	Enhancers	Placenta	Placenta
20	chr2:145795600-145796200	Enhancers	Left Ventricle	heart
21	chr2:145795600-145796200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:145795600-145796200	Enhancers	Right Atrium	heart
23	chr2:145795800-145796200	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:145795800-145796200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:145795800-145796200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:145795800-145796400	Enhancers	Brain Substantia Nigra	brain
27	chr2:145795800-145797000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:145796000-145796200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:145796000-145796200	Enhancers	Brain Angular Gyrus	brain
30	chr2:145796000-145796200	Enhancers	Brain Anterior Caudate	brain
31	chr2:145796000-145796200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:145796000-145797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:145796000-145798800	Weak transcription	Esophagus	oesophagus
34	chr2:145796000-145799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:145796000-145808600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links