Variant report

Variant	rs4722747
Chromosome Location	chr7:27989862-27989863
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	chr7:27989841..27992529-chr7:27996286..27999269,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11760913	0.86[CHB][hapmap]
rs17621988	0.81[CEU][hapmap]
rs17622746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622806	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1989908	0.81[CEU][hapmap]
rs1989909	0.81[CEU][hapmap]
rs2040666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28566774	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34118973	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34269971	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3919460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67716336	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68104887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968704	0.86[CHB][hapmap]
rs7776540	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs7783465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9801472	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27974000-27990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:27976600-27991600	Weak transcription	Osteobl	bone
6	chr7:27977000-28001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:27977400-27991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:27978600-27993000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:27979200-28000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:27980200-28000000	Weak transcription	Lung	lung
11	chr7:27980400-28000000	Weak transcription	Pancreas	Pancrea
12	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
13	chr7:27980600-27993400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:27985000-27990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:27985600-27991200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:27986600-27991400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:27986600-27991600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:27987200-27990200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:27987600-27990800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:27987800-27990200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:27987800-27991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:27987800-27991400	Weak transcription	NHDF-Ad	bronchial
23	chr7:27987800-27991600	Weak transcription	Fetal Stomach	stomach
24	chr7:27987800-27992400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:27987800-27993400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:27987800-27998200	Weak transcription	Ovary	ovary
27	chr7:27987800-27999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:27988000-27991600	Weak transcription	Right Atrium	heart
29	chr7:27988200-27990600	Enhancers	Brain Substantia Nigra	brain
30	chr7:27988200-27991400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:27988400-27990000	Strong transcription	Primary B cells from cord blood	blood
32	chr7:27988400-27990200	Enhancers	Left Ventricle	heart
33	chr7:27988800-27991800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:27988800-28002200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:27989000-27990000	Enhancers	Psoas Muscle	Psoas
36	chr7:27989000-27990200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:27989000-27991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:27989000-27996200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:27989200-27991600	Weak transcription	HSMM	muscle
40	chr7:27989200-28000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:27989400-27999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:27989600-27990600	Enhancers	Brain Hippocampus Middle	brain
43	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
44	chr7:27989800-27990000	Enhancers	Fetal Heart	heart
45	chr7:27989800-27990000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:27989800-27990400	Enhancers	Colon Smooth Muscle	Colon
47	chr7:27989800-27991600	Weak transcription	HSMMtube	muscle

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