Variant report

Variant	rs11898242
Chromosome Location	chr2:48437288-48437289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48436276..48438962-chr2:48439621..48441170,3	K562	blood:
2	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11893417	1.00[AMR][1000 genomes]
rs11897391	1.00[AMR][1000 genomes]
rs11901147	1.00[AMR][1000 genomes]
rs1396827	1.00[AMR][1000 genomes]
rs1483211	1.00[AMR][1000 genomes]
rs1483212	1.00[AMR][1000 genomes]
rs17037095	1.00[AMR][1000 genomes]
rs17037118	1.00[AMR][1000 genomes]
rs17037121	1.00[AMR][1000 genomes]
rs17037139	1.00[AMR][1000 genomes]
rs17037152	1.00[AMR][1000 genomes]
rs17037198	1.00[AMR][1000 genomes]
rs28702589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55876292	1.00[AMR][1000 genomes]
rs55877668	1.00[AMR][1000 genomes]
rs56136838	1.00[AMR][1000 genomes]
rs56162077	1.00[AMR][1000 genomes]
rs56244209	1.00[AMR][1000 genomes]
rs57023060	1.00[AMR][1000 genomes]
rs58394027	1.00[AMR][1000 genomes]
rs60806982	1.00[AMR][1000 genomes]
rs61615260	1.00[AMR][1000 genomes]
rs73927914	1.00[AMR][1000 genomes]
rs73927920	1.00[AMR][1000 genomes]
rs73927925	1.00[AMR][1000 genomes]
rs73927926	1.00[AMR][1000 genomes]
rs73927927	1.00[AMR][1000 genomes]
rs73927928	1.00[AMR][1000 genomes]
rs73927929	1.00[AMR][1000 genomes]
rs73927931	1.00[AMR][1000 genomes]
rs73927934	1.00[AMR][1000 genomes]
rs73927935	1.00[AMR][1000 genomes]
rs73927937	1.00[AMR][1000 genomes]
rs73927938	1.00[AMR][1000 genomes]
rs73927940	1.00[AMR][1000 genomes]
rs73927942	1.00[AMR][1000 genomes]
rs73927945	1.00[AMR][1000 genomes]
rs73927946	1.00[AMR][1000 genomes]
rs73927949	1.00[AMR][1000 genomes]
rs73927950	1.00[AMR][1000 genomes]
rs73927951	1.00[AMR][1000 genomes]
rs73927955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927960	1.00[AMR][1000 genomes]
rs73927961	1.00[AMR][1000 genomes]
rs73927962	1.00[AMR][1000 genomes]
rs7568794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48432800-48438200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:48433000-48438200	Weak transcription	Gastric	stomach
3	chr2:48434600-48441600	Weak transcription	Psoas Muscle	Psoas
4	chr2:48435800-48437400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:48435800-48438000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:48435800-48438000	Enhancers	HUVEC	blood vessel
7	chr2:48435800-48438400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48435800-48438400	Enhancers	NHDF-Ad	bronchial
9	chr2:48435800-48438400	Enhancers	Osteobl	bone
10	chr2:48435800-48439000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:48436600-48437800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:48436600-48441200	Weak transcription	K562	blood
13	chr2:48436800-48437400	Enhancers	Lung	lung
14	chr2:48436800-48437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:48436800-48438400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:48437000-48437800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:48437000-48437800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:48437000-48438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:48437000-48438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:48437000-48439400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:48437000-48441200	Weak transcription	Right Ventricle	heart
22	chr2:48437000-48446800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:48437200-48438200	Weak transcription	NH-A	brain

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