Variant report

Variant	rs2765255
Chromosome Location	chr1:62753383-62753384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62750494..62753386-chr1:62754498..62756263,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10889316	0.95[CHB][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207950	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs11579934	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs11584786	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12043263	0.83[EUR][1000 genomes]
rs12127930	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs1325738	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1886830	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1925825	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2666467	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2765254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765260	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765262	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850632	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3850633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903928	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915810	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6680736	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691591	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2765255	DAB1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62751200-62753400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:62751600-62753400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr1:62751600-62754200	Enhancers	Placenta	Placenta
4	chr1:62751600-62754800	Enhancers	Fetal Heart	heart
5	chr1:62751600-62755000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:62751600-62756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:62751800-62754800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:62752000-62753400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:62752200-62753600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr1:62752200-62753600	Enhancers	Fetal Kidney	kidney
11	chr1:62752400-62753400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:62752400-62753600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr1:62752400-62754400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:62752600-62753400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:62752600-62754600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:62752600-62755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:62752800-62753400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr1:62752800-62753400	Enhancers	Adipose Nuclei	Adipose
19	chr1:62752800-62753400	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr1:62753000-62753400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr1:62753000-62754000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:62753000-62754800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:62753000-62756400	Enhancers	HepG2	liver
24	chr1:62753200-62753400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr1:62753200-62753600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:62753200-62753800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr1:62753200-62754400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr1:62753200-62760000	Weak transcription	Fetal Stomach	stomach
29	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
30	chr1:62753200-62761600	Weak transcription	Right Atrium	heart

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