Variant report

Variant	rs4364550
Chromosome Location	chr7:40458304-40458305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10227645	0.88[CEU][hapmap]
rs10229210	1.00[CEU][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10236169	0.92[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap]
rs10238411	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs10241646	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10256660	0.88[CEU][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs10259706	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10261478	0.88[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs10263744	0.88[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11764628	0.88[CEU][hapmap]
rs11771964	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs11772072	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs12234882	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12669999	0.88[CEU][hapmap]
rs1532722	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs17171685	0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs2329774	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2329775	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34398005	0.81[EUR][1000 genomes]
rs34487990	0.86[EUR][1000 genomes]
rs3857747	0.88[CEU][hapmap]
rs4134194	0.88[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4257934	0.92[CEU][hapmap]
rs4332041	0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs4360204	0.88[CEU][hapmap]
rs4534056	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4613890	0.88[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes]
rs4640968	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4723961	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4723962	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6462979	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7779860	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782097	0.82[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7785515	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7803105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8180744	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9648486	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34484	chr7:40383159-40489083	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2757223	chr7:40384030-40497278	Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2759526	chr7:40384030-40497278	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv8081	chr7:40393228-40486239	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1016800	chr7:40409214-40470294	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1015701	chr7:40409214-40474936	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1027075	chr7:40438478-40479723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv1026022	chr7:40440560-40479066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv2761320	chr7:40440560-40479723	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv1032028	chr7:40440560-40479723	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1032883	chr7:40440560-40489083	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1019992	chr7:40443653-40479723	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40457800-40458400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:40457800-40458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:40457800-40458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:40457800-40458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:40457800-40458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:40457800-40458800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:40458000-40458400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:40458000-40458600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:40458200-40458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:40458200-40458400	Enhancers	Aorta	Aorta
11	chr7:40458200-40458400	Enhancers	Ovary	ovary
12	chr7:40458200-40458400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:40458200-40461000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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