Variant report

Variant	rs61045659
Chromosome Location	chr2:30596336-30596337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30453443..30455973-chr2:30592858..30597283,4	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4356698	1.00[AMR][1000 genomes]
rs55816765	1.00[AMR][1000 genomes]
rs55987207	1.00[AMR][1000 genomes]
rs57076287	1.00[AMR][1000 genomes]
rs57128291	1.00[AMR][1000 genomes]
rs58020576	1.00[AMR][1000 genomes]
rs58426874	1.00[AMR][1000 genomes]
rs59728852	1.00[AMR][1000 genomes]
rs60883034	1.00[AMR][1000 genomes]
rs60893697	1.00[AMR][1000 genomes]
rs73925136	1.00[AMR][1000 genomes]
rs73925138	1.00[AMR][1000 genomes]
rs73925142	1.00[AMR][1000 genomes]
rs73925144	1.00[AMR][1000 genomes]
rs73925145	1.00[AMR][1000 genomes]
rs73925146	1.00[AMR][1000 genomes]
rs73925147	1.00[AMR][1000 genomes]
rs73925148	1.00[AMR][1000 genomes]
rs73925149	1.00[AMR][1000 genomes]
rs73925154	1.00[AMR][1000 genomes]
rs73925159	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1010639	chr2:30593100-30598411	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 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	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
3	chr2:30591600-30596600	Weak transcription	NH-A	brain
4	chr2:30591600-30596800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:30591600-30596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:30591600-30597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:30592200-30597400	Weak transcription	Spleen	Spleen
8	chr2:30593000-30601000	Weak transcription	Pancreas	Pancrea
9	chr2:30594200-30596800	Weak transcription	Fetal Thymus	thymus
10	chr2:30594200-30597200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:30594400-30597600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:30594600-30597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:30594600-30597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:30594600-30597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:30594600-30597600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:30594600-30597600	Enhancers	Osteobl	bone
17	chr2:30594800-30597800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:30595200-30596800	Weak transcription	Fetal Kidney	kidney
19	chr2:30595200-30596800	Weak transcription	NHLF	lung
20	chr2:30595400-30596600	Weak transcription	Fetal Heart	heart
21	chr2:30595400-30596800	Weak transcription	HSMMtube	muscle
22	chr2:30595800-30596800	Weak transcription	Aorta	Aorta
23	chr2:30596200-30597600	Enhancers	HSMM	muscle

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