Variant report

Variant	rs532798983
Chromosome Location	chr2:72789797-72789798
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72775000-72808800	Weak transcription	Ovary	ovary
2	chr2:72783400-72792200	Weak transcription	Left Ventricle	heart
3	chr2:72783600-72793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:72784000-72800800	Weak transcription	Placenta	Placenta
5	chr2:72784200-72799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:72787600-72791000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:72788000-72789800	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:72788000-72790600	Enhancers	Hela-S3	cervix
10	chr2:72788200-72790000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:72788600-72789800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:72788600-72789800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:72788600-72789800	Enhancers	NHDF-Ad	bronchial
14	chr2:72788600-72790000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:72788600-72790000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:72788600-72790000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:72788600-72790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:72788600-72790000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:72788600-72790000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:72788600-72790000	Enhancers	Fetal Heart	heart
21	chr2:72788600-72790000	Enhancers	HSMM	muscle
22	chr2:72788600-72790200	Enhancers	Aorta	Aorta
23	chr2:72788600-72790200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:72788600-72790200	Enhancers	NHLF	lung
25	chr2:72788600-72790600	Enhancers	NH-A	brain
26	chr2:72788800-72789800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:72788800-72789800	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:72788800-72789800	Flanking Active TSS	HUVEC	blood vessel
29	chr2:72788800-72790000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:72788800-72790000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:72788800-72790000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:72788800-72790000	Flanking Active TSS	A549	lung
33	chr2:72788800-72790000	Enhancers	HMEC	breast
34	chr2:72788800-72790400	Enhancers	Colon Smooth Muscle	Colon
35	chr2:72788800-72790400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:72789000-72789800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:72789000-72789800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:72789000-72789800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:72789000-72789800	Enhancers	Brain Angular Gyrus	brain
40	chr2:72789000-72789800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:72789000-72790000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:72789000-72792200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:72789200-72789800	Enhancers	K562	blood
44	chr2:72789200-72789800	Enhancers	NHEK	skin
45	chr2:72789200-72790000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:72789200-72790000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:72789200-72790200	Enhancers	Brain Substantia Nigra	brain
48	chr2:72789200-72790600	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:72789200-72790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:72789200-72803600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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