Variant report

Variant	rs11693947
Chromosome Location	chr2:40269670-40269671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1117015	0.80[AFR][1000 genomes]
rs12468217	0.87[AFR][1000 genomes]
rs2215978	0.95[AFR][1000 genomes]
rs2215979	0.84[AFR][1000 genomes]
rs2373786	0.95[AFR][1000 genomes]
rs6544300	0.90[AFR][1000 genomes]
rs6712057	0.92[AFR][1000 genomes]
rs6732448	0.90[AFR][1000 genomes]
rs917978	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581501	chr2:40256218-40285145	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40262800-40270200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40262800-40270200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:40264800-40270600	Weak transcription	Right Atrium	heart
4	chr2:40265400-40270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40265600-40270200	Enhancers	HSMM	muscle
6	chr2:40266600-40270800	Enhancers	NHLF	lung
7	chr2:40268000-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40268200-40270400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40268200-40270600	Enhancers	Fetal Stomach	stomach
10	chr2:40268200-40270800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:40268200-40271800	Enhancers	NHDF-Ad	bronchial
12	chr2:40268400-40270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:40268400-40270400	Enhancers	Osteobl	bone
14	chr2:40268400-40271000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:40268600-40269800	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:40268600-40270000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:40268600-40270800	Enhancers	NH-A	brain
18	chr2:40268800-40269800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:40269000-40269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:40269400-40299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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