Variant report

Variant	rs1529387
Chromosome Location	chr2:145422953-145422954
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	chr2:145420530..145423010-chr2:145438909..145441021,2	K562	blood:
2	chr2:145422911..145424431-chr2:145433210..145435482,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10200647	0.91[ASN][1000 genomes]
rs10203655	0.91[ASN][1000 genomes]
rs10205995	0.88[ASN][1000 genomes]
rs10432351	0.81[ASN][1000 genomes]
rs10496966	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10928224	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10928225	0.91[ASN][1000 genomes]
rs10928226	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10928227	0.82[ASN][1000 genomes]
rs11674690	0.81[AFR][1000 genomes]
rs11679253	0.88[ASN][1000 genomes]
rs11900456	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12104619	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12471698	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478142	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623452	0.95[ASN][1000 genomes]
rs12991932	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12997597	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13003467	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13015001	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13016064	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032840	0.88[ASN][1000 genomes]
rs1351734	0.91[ASN][1000 genomes]
rs1365902	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1365905	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1384783	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427509	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1483491	0.81[ASN][1000 genomes]
rs1483499	0.82[ASN][1000 genomes]
rs1529386	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559961	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1559962	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1564697	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1896453	0.94[ASN][1000 genomes]
rs1896454	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1905347	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2086748	0.82[ASN][1000 genomes]
rs2195114	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2195115	0.95[ASN][1000 genomes]
rs2254435	0.90[ASN][1000 genomes]
rs2381651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35099259	0.99[ASN][1000 genomes]
rs3856364	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4271712	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4458150	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4471836	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4662232	0.81[ASN][1000 genomes]
rs4662393	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61440197	0.99[ASN][1000 genomes]
rs6707047	0.88[ASN][1000 genomes]
rs6728198	0.88[ASN][1000 genomes]
rs6745079	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72991962	0.99[ASN][1000 genomes]
rs7579453	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7580571	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs900554	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs958500	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs958501	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs980772	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145416800-145431400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:145417800-145423000	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:145418000-145423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:145419000-145423400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:145419000-145423400	Weak transcription	HMEC	breast
6	chr2:145419000-145432800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:145420200-145424000	Enhancers	K562	blood
8	chr2:145420600-145424600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:145421400-145426600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:145421600-145427200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:145422000-145423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:145422000-145426400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:145422200-145423400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:145422200-145423800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:145422400-145423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:145422600-145429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:145422800-145423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:145422800-145423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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