Variant report

Variant	rs2481689
Chromosome Location	chr1:62698797-62698798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1050334	0.85[ASN][1000 genomes]
rs10889309	0.83[ASN][1000 genomes]
rs10889310	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889313	0.83[ASN][1000 genomes]
rs10889315	0.84[ASN][1000 genomes]
rs11207941	0.85[ASN][1000 genomes]
rs11207943	0.83[ASN][1000 genomes]
rs11207944	0.83[ASN][1000 genomes]
rs11207945	0.83[ASN][1000 genomes]
rs11207946	0.83[ASN][1000 genomes]
rs12089897	0.83[ASN][1000 genomes]
rs12120789	0.85[ASN][1000 genomes]
rs12138777	0.81[ASN][1000 genomes]
rs12144282	0.85[ASN][1000 genomes]
rs2067994	0.83[ASN][1000 genomes]
rs2457812	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2774928	0.83[ASN][1000 genomes]
rs41289438	0.85[ASN][1000 genomes]
rs61775734	0.85[ASN][1000 genomes]
rs61775736	0.85[ASN][1000 genomes]
rs61775737	0.85[ASN][1000 genomes]
rs6660963	0.83[ASN][1000 genomes]
rs6664672	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680953	0.85[ASN][1000 genomes]
rs6688986	0.85[ASN][1000 genomes]
rs6696307	0.83[ASN][1000 genomes]
rs6696486	0.85[ASN][1000 genomes]
rs7553446	0.83[ASN][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62693600-62700800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:62693600-62700800	Enhancers	Placenta	Placenta
3	chr1:62694400-62699400	Enhancers	HMEC	breast
4	chr1:62695800-62699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:62695800-62703400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:62696000-62700000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:62696000-62700200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:62696600-62703600	Weak transcription	Fetal Stomach	stomach
9	chr1:62697000-62699800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:62697000-62700200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:62697000-62702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:62697000-62703600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:62697000-62706600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:62697200-62698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:62697200-62700400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:62697200-62702800	Weak transcription	A549	lung
17	chr1:62697400-62699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:62697400-62700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:62697400-62700400	Weak transcription	HSMM	muscle
20	chr1:62697400-62701800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:62697400-62702400	Weak transcription	NH-A	brain
22	chr1:62697400-62703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:62697600-62698800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:62697600-62699600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:62697600-62700000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:62697800-62698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:62698000-62701000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:62698200-62699600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:62698200-62704000	Enhancers	NHEK	skin
30	chr1:62698400-62699000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:62698400-62699000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:62698400-62699200	Enhancers	Fetal Muscle Leg	muscle
33	chr1:62698600-62699000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:62698600-62699000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:62698600-62699000	Enhancers	Fetal Lung	lung
36	chr1:62698600-62699800	Enhancers	HSMMtube	muscle
37	chr1:62698600-62700000	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:62698600-62701000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:62698600-62701200	Enhancers	HepG2	liver
40	chr1:62698600-62704400	Enhancers	Hela-S3	cervix

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