Variant report

Variant	rs11693242
Chromosome Location	chr2:100662865-100662866
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11675333	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680846	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684692	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11685258	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11685397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11688877	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11691359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692695	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11693804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695782	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12998219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13019124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17352731	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17437470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1821831	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34754366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34851723	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34860145	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35167301	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35462405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35720347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35742951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6724583	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736637	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6738012	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740622	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6748064	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74177693	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594938	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100644600-100668400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:100648200-100666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100653200-100667200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100654800-100668200	Weak transcription	Thymus	Thymus
5	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:100657800-100664400	Enhancers	Fetal Brain Male	brain
8	chr2:100658800-100668400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:100659600-100666000	Strong transcription	Primary B cells from cord blood	blood
11	chr2:100659800-100671600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:100660000-100669000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:100660800-100668800	Weak transcription	Lung	lung
15	chr2:100661000-100663000	Enhancers	Fetal Heart	heart
16	chr2:100661600-100668800	Weak transcription	Fetal Brain Female	brain
17	chr2:100661800-100667200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:100661800-100668400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:100661800-100670400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:100662200-100684800	Weak transcription	Ovary	ovary
21	chr2:100662400-100663000	Enhancers	Liver	Liver
22	chr2:100662400-100663000	Enhancers	Fetal Kidney	kidney
23	chr2:100662400-100663000	Enhancers	Right Atrium	heart
24	chr2:100662400-100663400	Strong transcription	Primary T cells from cord blood	blood
25	chr2:100662600-100663000	Enhancers	Gastric	stomach
26	chr2:100662600-100663000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr2:100662600-100663200	Enhancers	Fetal Lung	lung
28	chr2:100662800-100663000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:100662800-100664400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:100662800-100665600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:100662800-100667400	Weak transcription	Dnd41	blood
32	chr2:100662800-100674200	Weak transcription	Colon Smooth Muscle	Colon

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