Variant report

Variant	rs7551561
Chromosome Location	chr1:221939222-221939223
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	chr1:221932602..221935280-chr1:221937123..221939979,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3003888	0.89[ASN][1000 genomes]
rs3010845	0.92[ASN][1000 genomes]
rs4433403	0.92[ASN][1000 genomes]
rs4451554	0.92[ASN][1000 genomes]
rs4630135	0.85[ASN][1000 genomes]
rs4846353	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs4846725	0.92[ASN][1000 genomes]
rs6604672	0.92[ASN][1000 genomes]
rs9441867	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr1:221933800-221939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221935000-221939600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:221935600-221944000	Weak transcription	Pancreas	Pancrea
5	chr1:221938200-221939800	Enhancers	HUVEC	blood vessel
6	chr1:221938400-221939600	Enhancers	NHEK	skin
7	chr1:221938800-221940000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:221939000-221939400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:221939000-221939600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:221939000-221939800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:221939000-221940200	Enhancers	GM12878-XiMat	blood
12	chr1:221939000-221940200	Enhancers	NHDF-Ad	bronchial
13	chr1:221939200-221939400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:221939200-221939600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:221939200-221939600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:221939200-221939800	Enhancers	Hela-S3	cervix
17	chr1:221939200-221940000	Enhancers	HMEC	breast
18	chr1:221939200-221940200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:221939200-221940200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:221939200-221940200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:221939200-221940200	Enhancers	Dnd41	blood

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