Variant report

Variant	rs73308289
Chromosome Location	chr7:40617977-40617978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1000013	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1019018	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254954	0.88[EUR][1000 genomes]
rs10263677	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10429076	1.00[ASN][1000 genomes]
rs10486810	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486811	1.00[ASN][1000 genomes]
rs11973006	1.00[ASN][1000 genomes]
rs11974322	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977013	0.84[ASN][1000 genomes]
rs11980464	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982075	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171727	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171730	0.97[ASN][1000 genomes]
rs17171734	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17171747	1.00[ASN][1000 genomes]
rs1859660	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859705	0.84[ASN][1000 genomes]
rs2329818	0.94[EUR][1000 genomes]
rs2329819	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657711	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34523428	0.92[EUR][1000 genomes]
rs3919491	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4720368	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4720370	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4720371	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723966	0.85[EUR][1000 genomes]
rs4723967	0.88[EUR][1000 genomes]
rs4723968	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4723969	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4723970	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4723972	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57268522	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60011074	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60999211	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61107746	0.97[ASN][1000 genomes]
rs6462985	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67340458	1.00[ASN][1000 genomes]
rs6943787	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945570	0.88[EUR][1000 genomes]
rs6948724	1.00[ASN][1000 genomes]
rs6948900	1.00[ASN][1000 genomes]
rs6956277	1.00[ASN][1000 genomes]
rs6977104	0.88[EUR][1000 genomes]
rs73122188	1.00[ASN][1000 genomes]
rs73308254	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73308257	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73308260	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73308263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73308264	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73308269	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73308281	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73308284	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73308291	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73308300	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73310208	0.94[EUR][1000 genomes]
rs7808612	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917204	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9632613	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40611800-40618600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:40611800-40623400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:40611800-40626000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:40612000-40619000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:40612600-40618600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:40612800-40618600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:40612800-40619000	Weak transcription	HMEC	breast
8	chr7:40612800-40624600	Weak transcription	NHLF	lung
9	chr7:40613400-40618800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:40616200-40618800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:40616200-40619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:40616200-40619000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:40617800-40618400	Enhancers	Aorta	Aorta

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