Variant report

Variant	rs562247354
Chromosome Location	chr5:1653649-1653650
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	chr5:1651364..1654972-chr5:1656341..1659968,4	K562	blood:
2	chr5:1652097..1654972-chr5:1657057..1658557,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv880740	chr5:1468287-1671200	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv881554	chr5:1468287-1696932	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
4	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
5	nsv881096	chr5:1503610-1671200	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv880788	chr5:1629407-1671200	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv881328	chr5:1637461-1671200	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv596886	chr5:1644651-1655800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv433369	chr5:1644735-1656054	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv518935	chr5:1653418-1655800	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1652600-1655000	Enhancers	Primary B cells from cord blood	blood
2	chr5:1652800-1653800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr5:1652800-1654000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:1652800-1654000	Bivalent Enhancer	Colon Smooth Muscle	Colon
5	chr5:1652800-1654200	Bivalent Enhancer	Placenta	Placenta
6	chr5:1652800-1654200	Enhancers	Pancreas	Pancrea
7	chr5:1653000-1653800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr5:1653000-1653800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr5:1653000-1653800	Bivalent Enhancer	Fetal Lung	lung
10	chr5:1653000-1653800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr5:1653000-1653800	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr5:1653000-1654000	Enhancers	Fetal Heart	heart
13	chr5:1653000-1654000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr5:1653000-1654600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:1653000-1654600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr5:1653000-1654600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr5:1653000-1654800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:1653000-1654800	Enhancers	Spleen	Spleen
19	chr5:1653200-1653800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:1653200-1653800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:1653200-1653800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr5:1653200-1653800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr5:1653200-1653800	Bivalent Enhancer	Left Ventricle	heart
24	chr5:1653200-1653800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr5:1653200-1653800	Bivalent Enhancer	NHEK	skin
26	chr5:1653200-1654000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr5:1653200-1654200	Bivalent Enhancer	Esophagus	oesophagus
28	chr5:1653200-1654400	Flanking Active TSS	Dnd41	blood
29	chr5:1653400-1653800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr5:1653400-1653800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:1653400-1653800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:1653400-1653800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr5:1653400-1654000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:1653400-1654000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:1653400-1654200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr5:1653400-1654400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:1653400-1654600	Bivalent Enhancer	Fetal Brain Male	brain
38	chr5:1653400-1654600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr5:1653600-1653800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:1653600-1653800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:1653600-1653800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:1653600-1653800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:1653600-1653800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:1653600-1653800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:1653600-1653800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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