Variant report

Variant	rs58582639
Chromosome Location	chr1:221219000-221219001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221190353..221192913-chr1:221218200..221220004,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11118661	1.00[EUR][1000 genomes]
rs11804822	1.00[EUR][1000 genomes]
rs11811531	1.00[EUR][1000 genomes]
rs12072517	1.00[EUR][1000 genomes]
rs12073583	1.00[EUR][1000 genomes]
rs12086603	1.00[EUR][1000 genomes]
rs12097387	1.00[EUR][1000 genomes]
rs58220035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61501165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663534	1.00[EUR][1000 genomes]
rs73094956	1.00[EUR][1000 genomes]
rs73101522	1.00[EUR][1000 genomes]
rs74143437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74144384	1.00[EUR][1000 genomes]
rs74144425	1.00[EUR][1000 genomes]
rs7536615	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:221213200-221221000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:221213800-221219200	Weak transcription	NHDF-Ad	bronchial
4	chr1:221214000-221219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:221214400-221219200	Weak transcription	K562	blood
6	chr1:221214400-221219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:221214600-221219600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:221214600-221219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:221214600-221219800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:221215400-221219600	Weak transcription	Hela-S3	cervix
11	chr1:221218600-221220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:221218600-221221800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:221218800-221219200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:221218800-221219200	Enhancers	NHLF	lung
15	chr1:221218800-221222800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:221219000-221219200	Enhancers	GM12878-XiMat	blood
17	chr1:221219000-221219200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:221219000-221219400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:221219000-221219800	Enhancers	Primary B cells from cord blood	blood
20	chr1:221219000-221219800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:221219000-221220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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