Variant report

Variant	rs60630243
Chromosome Location	chr2:100479216-100479217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1346619	1.00[AMR][1000 genomes]
rs5011805	1.00[AMR][1000 genomes]
rs57859098	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634641	1.00[AMR][1000 genomes]
rs61339333	1.00[AMR][1000 genomes]
rs61348969	1.00[AMR][1000 genomes]
rs6542899	1.00[AMR][1000 genomes]
rs6706686	0.83[AMR][1000 genomes]
rs6707469	0.83[AMR][1000 genomes]
rs72956193	1.00[AMR][1000 genomes]
rs73964319	1.00[AMR][1000 genomes]
rs7558416	1.00[AMR][1000 genomes]
rs7608476	1.00[AMR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100443800-100496800	Weak transcription	Ovary	ovary
2	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas
3	chr2:100474400-100479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:100474400-100481800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:100474600-100481200	Weak transcription	Fetal Kidney	kidney
6	chr2:100474800-100481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100475000-100480400	Weak transcription	Gastric	stomach
8	chr2:100475400-100483800	Enhancers	Osteobl	bone
9	chr2:100475600-100480400	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:100475800-100481000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:100476000-100481000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100476000-100481000	Weak transcription	Small Intestine	intestine
13	chr2:100476200-100480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:100476800-100480800	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:100477000-100484800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:100477200-100479400	Enhancers	Fetal Lung	lung
17	chr2:100477200-100479400	Enhancers	HUVEC	blood vessel
18	chr2:100477400-100479400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:100477400-100481000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:100477400-100482800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:100477400-100483000	Enhancers	NH-A	brain
22	chr2:100477600-100480800	Weak transcription	Fetal Brain Female	brain
23	chr2:100478000-100480000	Enhancers	Primary B cells from cord blood	blood
24	chr2:100478000-100480400	Weak transcription	Fetal Heart	heart
25	chr2:100478000-100482600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:100478000-100490200	Weak transcription	Thymus	Thymus
27	chr2:100478200-100481200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:100479000-100479600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:100479000-100481000	Weak transcription	Lung	lung
30	chr2:100479000-100482400	Weak transcription	Placenta	Placenta
31	chr2:100479000-100483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:100479200-100480400	Weak transcription	Liver	Liver
33	chr2:100479200-100480400	Weak transcription	Fetal Brain Male	brain
34	chr2:100479200-100480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:100479200-100481200	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:100479200-100481200	Weak transcription	Fetal Stomach	stomach
37	chr2:100479200-100482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:100479200-100482400	Weak transcription	Primary T cells from cord blood	blood
39	chr2:100479200-100484000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:100479200-100484000	Weak transcription	Fetal Thymus	thymus

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