Variant report

Variant	rs34771595
Chromosome Location	chr3:150517939-150517940
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150473033..150475794-chr3:150515641..150518392,2	K562	blood:
2	chr3:150320057..150322115-chr3:150517881..150519684,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120742	Chromatin interaction
ENSG00000198843	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1373418	0.87[EUR][1000 genomes]
rs1444197	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16862842	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16862858	0.82[EUR][1000 genomes]
rs1814463	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1814464	0.87[EUR][1000 genomes]
rs1838337	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1915365	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2014279	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2018246	0.87[EUR][1000 genomes]
rs2116684	0.81[AMR][1000 genomes]
rs2869479	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34348847	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3851356	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41354246	0.87[EUR][1000 genomes]
rs41372346	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41454348	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56840421	0.81[AMR][1000 genomes]
rs57278175	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57359526	0.81[AMR][1000 genomes]
rs57869178	0.87[EUR][1000 genomes]
rs57965761	0.81[AMR][1000 genomes]
rs58403524	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58418105	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60259684	0.87[EUR][1000 genomes]
rs60523415	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61628582	0.81[AMR][1000 genomes]
rs6440696	0.87[EUR][1000 genomes]
rs6440697	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6440698	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6769917	0.87[EUR][1000 genomes]
rs6777178	0.87[EUR][1000 genomes]
rs6795396	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6803830	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6805481	0.87[EUR][1000 genomes]
rs6806197	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71764080	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72993403	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73003787	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73003792	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73005814	0.82[EUR][1000 genomes]
rs73010941	0.87[EUR][1000 genomes]
rs73010947	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010956	0.87[EUR][1000 genomes]
rs73010964	0.87[EUR][1000 genomes]
rs73010965	0.87[EUR][1000 genomes]
rs73010967	0.93[EUR][1000 genomes]
rs73869297	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7617507	0.87[EUR][1000 genomes]
rs7628481	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7628776	0.87[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
rs34771595	EPM2AIP1	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 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	chr3:150516400-150518000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:150516400-150521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:150516400-150521400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:150516400-150521600	Weak transcription	Gastric	stomach
7	chr3:150516600-150518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:150516600-150521400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:150516600-150523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:150516800-150522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:150517000-150521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:150517000-150522600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:150517800-150522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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