Variant report

Variant	rs7459324
Chromosome Location	chr7:40680976-40680977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1000013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1019018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs10256576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs10486810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs10486811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11973006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11974322	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11977013	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11982075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs17171727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171730	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171734	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs17171747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17171749	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171750	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171753	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1859705	0.93[ASN][1000 genomes]
rs2329818	1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs2329819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs34523428	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs3919491	1.00[CEU][hapmap]
rs4720370	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs4720371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4723967	0.88[TSI][hapmap]
rs4723970	0.88[TSI][hapmap]
rs4723972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs58275184	0.91[EUR][1000 genomes]
rs6462985	1.00[CEU][hapmap]
rs6948724	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6948900	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6954401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956277	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73310222	0.91[EUR][1000 genomes]
rs73310225	0.89[EUR][1000 genomes]
rs73310227	0.91[EUR][1000 genomes]
rs73310231	0.91[EUR][1000 genomes]
rs73310238	0.87[EUR][1000 genomes]
rs73310243	0.87[EUR][1000 genomes]
rs73310244	0.87[EUR][1000 genomes]
rs7808612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]

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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7459324	POLD2	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40669200-40681400	Weak transcription	Aorta	Aorta
2	chr7:40678600-40683800	Weak transcription	Fetal Heart	heart
3	chr7:40679800-40681000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:40680000-40681200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:40680000-40681200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:40680600-40698000	Weak transcription	HSMMtube	muscle
7	chr7:40680800-40683400	Weak transcription	Fetal Stomach	stomach

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