Variant report

Variant	rs4723963
Chromosome Location	chr7:40459729-40459730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10237675	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259977	0.85[YRI][hapmap]
rs10273987	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs10452813	1.00[AMR][1000 genomes]
rs10807903	0.88[YRI][hapmap]
rs11771463	0.84[YRI][hapmap]
rs11773518	0.85[YRI][hapmap]
rs13232967	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1393439	0.85[YRI][hapmap]
rs1393440	0.85[YRI][hapmap]
rs1393442	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2422301	0.90[YRI][hapmap]
rs4134202	0.85[MKK][hapmap]
rs4360193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4386872	0.85[YRI][hapmap]
rs4392801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4449689	0.85[MKK][hapmap];0.90[YRI][hapmap]
rs4513884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4521659	0.95[YRI][hapmap]
rs4560709	0.85[YRI][hapmap]
rs4562217	0.81[YRI][hapmap]
rs4566947	0.85[YRI][hapmap]
rs4571646	0.94[YRI][hapmap]
rs4723953	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs61347989	1.00[AMR][1000 genomes]
rs6966371	1.00[LWK][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs6973720	0.85[YRI][hapmap]
rs6977218	0.90[YRI][hapmap]
rs7782940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7787193	0.84[YRI][hapmap]
rs7790445	1.00[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:40458200-40461000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:40458400-40473200	Weak transcription	Aorta	Aorta
7	chr7:40459000-40459800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40459000-40459800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:40459000-40459800	Enhancers	Ovary	ovary
10	chr7:40459200-40459800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:40459200-40459800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr7:40459200-40459800	Enhancers	NHDF-Ad	bronchial
13	chr7:40459200-40460000	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:40459400-40459800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:40459400-40460000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:40459400-40460000	Enhancers	Rectal Mucosa Donor 31	rectum

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