Variant report

Variant	rs6440698
Chromosome Location	chr3:150516911-150516912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150507241..150509136-chr3:150514867..150517780,2	MCF-7	breast:
2	chr3:150488049..150489741-chr3:150515529..150517629,2	K562	blood:
3	chr3:150473033..150475794-chr3:150515641..150518392,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1444197	0.81[EUR][1000 genomes]
rs16862842	0.81[EUR][1000 genomes]
rs1814463	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1814464	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1838337	0.81[EUR][1000 genomes]
rs1915365	0.81[EUR][1000 genomes]
rs2014279	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2018246	0.88[EUR][1000 genomes]
rs2869479	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34348847	0.88[EUR][1000 genomes]
rs34771595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3851356	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41372346	0.81[EUR][1000 genomes]
rs55898202	0.83[ASN][1000 genomes]
rs57278175	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57869178	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58403524	0.81[EUR][1000 genomes]
rs60259684	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60523415	0.81[EUR][1000 genomes]
rs6440696	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6440697	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440699	0.82[AMR][1000 genomes]
rs6769917	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6777178	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6792791	0.80[AMR][1000 genomes]
rs6795396	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6803830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6805481	0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6806197	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71764080	0.81[EUR][1000 genomes]
rs72993403	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73003787	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73003792	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73005814	0.94[EUR][1000 genomes]
rs73010941	0.88[EUR][1000 genomes]
rs73010947	0.87[EUR][1000 genomes]
rs73010956	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73010964	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73010965	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73010967	0.81[EUR][1000 genomes]
rs73869297	0.87[EUR][1000 genomes]
rs7617507	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7628481	0.87[EUR][1000 genomes]
rs7628776	0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6440698	EPM2AIP1	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150509800-150518400	Weak transcription	Aorta	Aorta
2	chr3:150511600-150518800	Enhancers	Placenta	Placenta
3	chr3:150515600-150517000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:150515600-150517000	Enhancers	HepG2	liver
5	chr3:150515800-150517000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:150515800-150517000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:150516400-150517200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:150516400-150518000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:150516400-150521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:150516400-150521400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150516400-150521600	Weak transcription	Gastric	stomach
12	chr3:150516600-150517000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:150516600-150517600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:150516600-150518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:150516600-150521400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:150516600-150523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:150516800-150522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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