Variant report

Variant	rs590931
Chromosome Location	chr1:91994141-91994142
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	chr1:91984712..91986944-chr1:91994080..91996686,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1506786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879470	1.00[AMR][1000 genomes]
rs2219395	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34011609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs517460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs529778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs582636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59894382	1.00[AMR][1000 genomes]
rs6661449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952916	1.00[AMR][1000 genomes]
rs72968489	1.00[AMR][1000 genomes]
rs72968494	1.00[AMR][1000 genomes]
rs72968496	1.00[AMR][1000 genomes]
rs72968502	1.00[AMR][1000 genomes]
rs72970312	1.00[AMR][1000 genomes]
rs72970317	1.00[AMR][1000 genomes]
rs72970324	1.00[AMR][1000 genomes]
rs72970332	1.00[AMR][1000 genomes]
rs72970344	1.00[AMR][1000 genomes]
rs72970362	1.00[AMR][1000 genomes]
rs72970365	1.00[AMR][1000 genomes]
rs72970366	1.00[AMR][1000 genomes]
rs72970375	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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
2	chr1:91975000-91995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:91977800-91995200	Weak transcription	HMEC	breast
4	chr1:91980600-91995800	Weak transcription	HSMM	muscle
5	chr1:91981000-91995200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:91983000-92002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:91983200-91995400	Weak transcription	Hela-S3	cervix
8	chr1:91983200-91995400	Weak transcription	NHEK	skin
9	chr1:91983400-91995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:91983400-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:91984400-91998000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:91984600-91994400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:91984600-91995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:91984600-91997800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:91985000-92000400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:91989200-91997800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:91989400-91997200	Weak transcription	GM12878-XiMat	blood
18	chr1:91989400-92002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:91989800-91995400	Weak transcription	A549	lung
20	chr1:91990000-91999400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:91990800-91995400	Enhancers	NHDF-Ad	bronchial
22	chr1:91990800-91998000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:91990800-91998000	Weak transcription	Fetal Heart	heart
24	chr1:91990800-92000800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:91991000-91994600	Enhancers	Fetal Stomach	stomach
26	chr1:91991000-91995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:91991000-91996400	Weak transcription	Dnd41	blood
28	chr1:91991200-91994800	Weak transcription	K562	blood
29	chr1:91991200-91997800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:91991400-91994800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:91991600-91996000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:91992600-91994400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:91992600-91994600	Weak transcription	Fetal Kidney	kidney
34	chr1:91993200-91997800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:91994000-91994200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:91994000-91994600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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