Variant report

Variant	rs11902448
Chromosome Location	chr2:145417195-145417196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145412857..145414621-chr2:145415178..145417643,2	K562	blood:
2	chr2:145274078..145277660-chr2:145416044..145421775,6	K562	blood:
3	chr2:145409535..145412202-chr2:145415211..145417473,3	K562	blood:
4	chr2:145274632..145276201-chr2:145416044..145418345,3	K562	blood:
5	chr2:145416681..145419273-chr2:145639225..145641332,2	K562	blood:
6	chr2:145415897..145417567-chr2:145434431..145436385,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction
ENSG00000268580	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1035838	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893123	0.85[AMR][1000 genomes]
rs13016078	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1564699	0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs6721427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs979929	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145412000-145417200	Weak transcription	Esophagus	oesophagus
2	chr2:145412400-145417600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:145413800-145422000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:145416400-145420000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:145416600-145417200	Enhancers	NHEK	skin
6	chr2:145416800-145417600	Enhancers	NH-A	brain
7	chr2:145416800-145419000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:145416800-145419000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:145416800-145419000	Enhancers	HMEC	breast
10	chr2:145416800-145419000	Enhancers	HSMM	muscle
11	chr2:145416800-145431400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:145417000-145417200	Enhancers	K562	blood
13	chr2:145417000-145417400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:145417000-145417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:145417000-145418000	Enhancers	HSMMtube	muscle
16	chr2:145417000-145418400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:145417000-145418800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:145417000-145418800	Enhancers	Hela-S3	cervix
19	chr2:145417000-145418800	Enhancers	Osteobl	bone
20	chr2:145417000-145419000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:145417000-145419000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:145417000-145419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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