Variant report

Variant	rs73721268
Chromosome Location	chr7:127618019-127618020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs55673039	0.87[AFR][1000 genomes]
rs55820323	1.00[AMR][1000 genomes]
rs55997549	0.87[AFR][1000 genomes]
rs56221924	1.00[AMR][1000 genomes]
rs56258700	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347144	1.00[AMR][1000 genomes]
rs56922858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57683992	0.87[AFR][1000 genomes]
rs57866092	0.87[AFR][1000 genomes]
rs57918669	0.81[AFR][1000 genomes]
rs58102896	1.00[AMR][1000 genomes]
rs58659499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59781795	0.83[AFR][1000 genomes]
rs59896746	0.81[AFR][1000 genomes]
rs60776739	0.87[AFR][1000 genomes]
rs60805384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60865612	0.87[AFR][1000 genomes]
rs61180975	0.84[AFR][1000 genomes]
rs6951386	0.81[AFR][1000 genomes]
rs6951924	1.00[AMR][1000 genomes]
rs6956334	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956777	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966554	1.00[AMR][1000 genomes]
rs6977011	1.00[AMR][1000 genomes]
rs73721004	1.00[AMR][1000 genomes]
rs73721005	1.00[AMR][1000 genomes]
rs73721006	1.00[AMR][1000 genomes]
rs73721007	1.00[AMR][1000 genomes]
rs73721008	1.00[AMR][1000 genomes]
rs73721009	1.00[AMR][1000 genomes]
rs73721011	1.00[AMR][1000 genomes]
rs73721012	1.00[AMR][1000 genomes]
rs73721015	1.00[AMR][1000 genomes]
rs73721017	1.00[AMR][1000 genomes]
rs73721018	1.00[AMR][1000 genomes]
rs73721019	1.00[AMR][1000 genomes]
rs73721020	1.00[AMR][1000 genomes]
rs73721021	1.00[AMR][1000 genomes]
rs73721023	1.00[AMR][1000 genomes]
rs73721024	1.00[AMR][1000 genomes]
rs73721025	1.00[AMR][1000 genomes]
rs73721026	1.00[AMR][1000 genomes]
rs73721028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721262	0.81[AFR][1000 genomes]
rs73721265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721272	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721275	0.87[AFR][1000 genomes]
rs73721276	0.87[AFR][1000 genomes]
rs73721277	0.87[AFR][1000 genomes]
rs73721280	0.87[AFR][1000 genomes]
rs73721281	0.87[AFR][1000 genomes]
rs73721284	0.87[AFR][1000 genomes]
rs73721285	0.87[AFR][1000 genomes]
rs73721286	0.87[AFR][1000 genomes]
rs73721287	0.87[AFR][1000 genomes]
rs73721290	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721291	0.83[AFR][1000 genomes]
rs73721293	0.83[AFR][1000 genomes]
rs73721294	0.83[AFR][1000 genomes]
rs73721295	0.83[AFR][1000 genomes]
rs73721296	0.83[AFR][1000 genomes]
rs73721297	0.83[AFR][1000 genomes]
rs73721298	0.83[AFR][1000 genomes]
rs73723043	0.81[AFR][1000 genomes]
rs73723044	0.81[AFR][1000 genomes]
rs73723056	0.81[AFR][1000 genomes]
rs73723057	0.81[AFR][1000 genomes]
rs73723058	0.81[AFR][1000 genomes]
rs73723059	0.81[AFR][1000 genomes]
rs73723060	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
4	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:127600400-127618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
7	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
8	chr7:127603200-127619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:127603400-127619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:127607800-127626800	Weak transcription	Ovary	ovary
12	chr7:127609200-127618200	Weak transcription	Osteobl	bone
13	chr7:127609200-127618800	Weak transcription	Fetal Thymus	thymus
14	chr7:127609200-127630800	Weak transcription	NH-A	brain
15	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
16	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
17	chr7:127612800-127618200	Strong transcription	K562	blood
18	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:127615000-127619000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:127615400-127619000	Strong transcription	Liver	Liver
24	chr7:127615600-127619600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:127615800-127625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:127616000-127618200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:127616000-127618200	Strong transcription	NHEK	skin
28	chr7:127616000-127618600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:127616200-127619800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr7:127616200-127623800	Weak transcription	HSMMtube	muscle
31	chr7:127616200-127624600	Weak transcription	Right Ventricle	heart
32	chr7:127616400-127618400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:127616400-127618400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:127616400-127618400	Strong transcription	Thymus	Thymus
35	chr7:127616400-127618600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:127616400-127619600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr7:127616400-127619600	Strong transcription	HepG2	liver
38	chr7:127616400-127624800	Weak transcription	Left Ventricle	heart
39	chr7:127616600-127618400	Strong transcription	A549	lung
40	chr7:127616800-127619600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr7:127616800-127619600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr7:127616800-127620000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:127616800-127625000	Weak transcription	Lung	lung
44	chr7:127617000-127618400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:127617000-127618600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:127617000-127619200	Weak transcription	Stomach Mucosa	stomach
47	chr7:127617000-127619600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:127617000-127619600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr7:127617000-127623200	Weak transcription	Fetal Heart	heart
50	chr7:127617000-127628800	Weak transcription	Spleen	Spleen

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