Variant report

Variant	rs529111254
Chromosome Location	chr3:48581811-48581812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48504638..48507562-chr3:48580974..48584844,3	MCF-7	breast:
2	chr3:48508547..48510536-chr3:48581304..48583725,2	K562	blood:
3	chr3:48580876..48582431-chr3:48589920..48591706,2	K562	blood:
4	chr3:48575329..48579039-chr3:48581677..48584572,3	K562	blood:
5	chr3:48505094..48507192-chr3:48581035..48583358,2	MCF-7	breast:
6	chr3:48580179..48583037-chr3:48585118..48587364,2	K562	blood:

Variant related genes	Relation type
ENSG00000213689	Chromatin interaction
ENSG00000114268	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	esv3406976	chr3:48581748-48585946	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48547600-48591600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:48555200-48582200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:48556200-48586800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:48556400-48586400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:48559600-48586400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:48562600-48592000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:48565800-48583600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:48568800-48586000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:48570600-48591600	Weak transcription	Fetal Brain Male	brain
10	chr3:48572200-48583800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:48573400-48584400	Weak transcription	Fetal Kidney	kidney
12	chr3:48573600-48583600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:48573600-48589600	Weak transcription	Fetal Lung	lung
14	chr3:48573600-48592600	Weak transcription	NHDF-Ad	bronchial
15	chr3:48573600-48593400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:48574000-48583400	Weak transcription	Aorta	Aorta
17	chr3:48574000-48583400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:48574200-48586000	Weak transcription	Primary T cells from cord blood	blood
19	chr3:48574400-48583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:48574400-48583400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:48574400-48591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:48574800-48583600	Weak transcription	NH-A	brain
23	chr3:48574800-48591200	Weak transcription	Dnd41	blood
24	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
25	chr3:48576200-48583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:48576400-48583400	Weak transcription	Brain Angular Gyrus	brain
27	chr3:48576400-48583400	Weak transcription	A549	lung
28	chr3:48576400-48590200	Weak transcription	Colonic Mucosa	Colon
29	chr3:48576400-48591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:48576600-48583200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:48576600-48583600	Weak transcription	Osteobl	bone
32	chr3:48576800-48583600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:48577000-48582800	Weak transcription	NHLF	lung
34	chr3:48577000-48583600	Weak transcription	Esophagus	oesophagus
35	chr3:48577200-48583400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:48577200-48583600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:48577200-48583600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:48577200-48583600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:48577600-48583400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:48577600-48583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:48577600-48586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:48577600-48589600	Weak transcription	Gastric	stomach
43	chr3:48577600-48591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:48577800-48583200	Weak transcription	HMEC	breast
45	chr3:48578000-48583400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:48578000-48583400	Weak transcription	Brain Anterior Caudate	brain
47	chr3:48578000-48593400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:48579200-48582800	Strong transcription	HepG2	liver
49	chr3:48579200-48586200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr3:48579800-48586000	Strong transcription	H1 Cell Line	embryonic stem cell

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