Variant report

Variant	rs73112688
Chromosome Location	chr1:221984920-221984921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73110894	1.00[AFR][1000 genomes]
rs73112626	1.00[AFR][1000 genomes]
rs73112655	1.00[AFR][1000 genomes]
rs73112668	1.00[AFR][1000 genomes]
rs73114716	1.00[AFR][1000 genomes]
rs73116752	1.00[AFR][1000 genomes]
rs73116759	1.00[AFR][1000 genomes]
rs73116767	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221979600-221985000	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:221982000-221985000	Enhancers	NHDF-Ad	bronchial
4	chr1:221983400-221985000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:221984000-221990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:221984200-221985000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:221984200-221986000	Enhancers	Pancreas	Pancrea
8	chr1:221984400-221985000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:221984400-221985000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:221984400-221989600	Weak transcription	HSMM	muscle
11	chr1:221984400-221989800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:221984600-221989800	Weak transcription	Osteobl	bone
13	chr1:221984600-221990000	Weak transcription	NHLF	lung
14	chr1:221984600-221997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:221984800-221989000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:221984800-221989000	Weak transcription	HMEC	breast
17	chr1:221984800-221989600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:221984800-221989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:221984800-221989600	Weak transcription	NHEK	skin
20	chr1:221984800-221989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:221984800-221990000	Weak transcription	NH-A	brain

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