Variant report

Variant	rs74133222
Chromosome Location	chr1:185613931-185613932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55646109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55785813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55868516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55953486	1.00[AFR][1000 genomes]
rs57402553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs60005347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133210	1.00[AMR][1000 genomes]
rs74133214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133237	1.00[AMR][1000 genomes]
rs74135007	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185607600-185618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:185613200-185614200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr1:185613200-185614400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:185613200-185615600	Enhancers	HMEC	breast
5	chr1:185613200-185616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185613400-185614000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr1:185613400-185614000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr1:185613400-185614200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr1:185613400-185614400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr1:185613400-185615600	Enhancers	Hela-S3	cervix
11	chr1:185613600-185614000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:185613600-185614000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr1:185613600-185614200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:185613600-185615600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:185613600-185617400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:185613800-185614000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:185613800-185614000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185613800-185614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:185613800-185614000	Weak transcription	NHEK	skin
20	chr1:185613800-185614200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:185613800-185614600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:185613800-185614600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:185613800-185614800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:185613800-185615200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:185613800-185615600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:185613800-185615600	Enhancers	Osteobl	bone

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