Variant report

Variant	rs10053303
Chromosome Location	chr5:90231189-90231190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90229324..90232052-chr5:90677274..90680674,3	K562	blood:
2	chr5:90228479..90231902-chr5:90233871..90236526,4	K562	blood:
3	chr5:90224688..90232317-chr5:90673389..90680405,10	MCF-7	breast:
4	chr5:90229167..90233295-chr5:90677274..90680506,5	K562	blood:
5	chr5:90229213..90231347-chr5:90243310..90245324,2	K562	blood:
6	chr5:90229694..90231320-chr5:90235004..90237466,2	K562	blood:
7	chr5:90230829..90232483-chr5:90277236..90279567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10035662	0.97[ASN][1000 genomes]
rs10045071	0.85[CEU][hapmap]
rs10052015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10052314	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10059629	0.89[CEU][hapmap];0.92[CHB][hapmap]
rs10060641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10061193	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10078496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10079044	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10474336	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10514340	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10942620	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12054681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs12055217	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513628	0.86[ASN][1000 genomes]
rs12515473	0.83[ASN][1000 genomes]
rs12515481	0.91[ASN][1000 genomes]
rs12520956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12522395	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13353995	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13355731	0.82[ASN][1000 genomes]
rs16869175	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs16869247	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17556421	0.97[ASN][1000 genomes]
rs2247415	0.92[CHB][hapmap]
rs2366935	0.89[CEU][hapmap];0.91[CHB][hapmap]
rs2438338	0.84[CHB][hapmap]
rs2438342	0.84[CHB][hapmap]
rs2438343	0.92[CHB][hapmap]
rs2438344	0.92[CHB][hapmap]
rs2438345	0.83[CHB][hapmap]
rs2438353	0.92[CHB][hapmap]
rs2443068	0.83[CHB][hapmap]
rs28597697	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098356	0.83[CHB][hapmap]
rs4916698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916827	0.83[CHB][hapmap]
rs4916829	0.83[CHB][hapmap]
rs55977992	0.88[ASN][1000 genomes]
rs56908576	0.91[ASN][1000 genomes]
rs57954532	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58201771	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs73185149	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185150	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225600-90232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:90225800-90236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
5	chr5:90228600-90235000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:90229400-90233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:90229400-90235600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:90229800-90235000	Weak transcription	Fetal Kidney	kidney
9	chr5:90229800-90235800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:90229800-90235800	Weak transcription	Fetal Stomach	stomach
11	chr5:90230000-90234600	Weak transcription	A549	lung
12	chr5:90230400-90265200	Weak transcription	K562	blood
13	chr5:90230800-90231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:90230800-90235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90230800-90235800	Weak transcription	HepG2	liver

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