Variant report

Variant	rs7724821
Chromosome Location	chr5:1792474-1792475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10040940	0.88[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10866525	0.91[ASN][1000 genomes]
rs13154141	0.82[ASN][1000 genomes]
rs4975731	0.83[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4975733	0.83[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878719	1.00[ASN][1000 genomes]
rs7449137	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs750532	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs904757	0.84[MEX][hapmap]
rs904758	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs904760	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers 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	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1785200-1795000	Weak transcription	Spleen	Spleen
2	chr5:1785200-1796000	Weak transcription	Thymus	Thymus
3	chr5:1786800-1796000	Weak transcription	Gastric	stomach
4	chr5:1789000-1795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:1789200-1792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
8	chr5:1789400-1792800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:1789400-1795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:1789800-1792800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr5:1790000-1792800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:1790000-1792800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:1790200-1793200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:1790200-1795600	Enhancers	Fetal Muscle Leg	muscle
15	chr5:1790200-1796200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:1790400-1794200	Weak transcription	Fetal Heart	heart
17	chr5:1790400-1795600	Enhancers	NHDF-Ad	bronchial
18	chr5:1790400-1796400	Weak transcription	Brain Anterior Caudate	brain
19	chr5:1790400-1796800	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:1790600-1792800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:1790600-1793200	Enhancers	HSMM	muscle
22	chr5:1790600-1793800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:1790600-1794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:1790600-1794400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:1790600-1796200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:1790600-1796400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:1790600-1796600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:1790600-1797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:1790600-1797000	Weak transcription	Fetal Lung	lung
30	chr5:1790600-1797800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:1790800-1792800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:1790800-1793800	Enhancers	HUVEC	blood vessel
33	chr5:1790800-1795200	Enhancers	Fetal Thymus	thymus
34	chr5:1790800-1796000	Weak transcription	Brain Substantia Nigra	brain
35	chr5:1790800-1796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:1790800-1796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:1790800-1796600	Weak transcription	Adipose Nuclei	Adipose
38	chr5:1790800-1797000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:1791000-1792600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:1791000-1792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:1791000-1792800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:1791000-1792800	Enhancers	NH-A	brain
43	chr5:1791000-1793000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:1791000-1793200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:1791000-1793200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:1791000-1793400	Weak transcription	Right Ventricle	heart
47	chr5:1791000-1793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:1791000-1794800	Weak transcription	Fetal Stomach	stomach
49	chr5:1791000-1795200	Weak transcription	Fetal Brain Female	brain
50	chr5:1791000-1795200	Enhancers	NHLF	lung

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