Variant report

Variant	rs387927
Chromosome Location	chr2:141504719-141504720
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	chr2:141503402..141505492-chr2:141538809..141541757,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10177120	0.80[CEU][hapmap]
rs10203227	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs10439180	0.80[CEU][hapmap]
rs12466110	1.00[CEU][hapmap]
rs12477689	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs12624056	0.86[CEU][hapmap];0.95[CHB][hapmap]
rs13419407	0.91[CEU][hapmap]
rs1372255	0.91[CEU][hapmap]
rs1441452	0.80[CEU][hapmap]
rs1441455	0.91[CEU][hapmap]
rs1441456	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap]
rs1441458	0.87[CEU][hapmap]
rs1441459	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1441460	0.95[CEU][hapmap]
rs167011	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs169638	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs185959	1.00[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap]
rs2046507	0.91[CEU][hapmap]
rs208359	0.82[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs2119610	1.00[CEU][hapmap]
rs2165506	0.81[TSI][hapmap]
rs2218241	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2218242	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs2380915	0.90[JPT][hapmap]
rs288097	0.85[CHB][hapmap];0.90[LWK][hapmap];0.87[YRI][hapmap]
rs288105	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs288110	0.91[CEU][hapmap]
rs288111	0.82[CEU][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs288112	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs288117	0.84[CHB][hapmap]
rs288119	0.85[CHB][hapmap]
rs288120	0.85[CHB][hapmap];0.93[LWK][hapmap];0.88[YRI][hapmap]
rs288121	0.85[CHB][hapmap]
rs288123	0.85[CHB][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap]
rs288125	0.85[CHB][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap]
rs382721	1.00[CEU][hapmap]
rs412067	0.83[CHB][hapmap];0.87[YRI][hapmap]
rs412416	0.85[CHB][hapmap]
rs414023	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs421523	0.82[ASN][1000 genomes]
rs4954852	0.91[CEU][hapmap]
rs655405	0.91[JPT][hapmap]
rs6721343	0.85[CHB][hapmap]
rs68114789	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs726340	0.91[CEU][hapmap]
rs72925888	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7596671	1.00[CEU][hapmap]
rs9287299	0.80[CEU][hapmap]
rs9967729	0.81[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875194	chr2:141391918-141504719	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875195	chr2:141407101-141542081	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875198	chr2:141409166-141571329	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875199	chr2:141409166-141600366	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875200	chr2:141448312-141504719	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv875201	chr2:141448312-141561255	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875202	chr2:141448312-141587228	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv875203	chr2:141448312-141592252	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875204	chr2:141496596-141592252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875205	chr2:141500692-141592252	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3390286	chr2:141504707-141507655	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv875206	chr2:141504719-141571329	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs387927	LRP1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141504600-141505600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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