Variant report

Variant	rs28490497
Chromosome Location	chr14:69223273-69223274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69221254..69223368-chr14:69224399..69226935,2	MCF-7	breast:
2	chr14:69222295..69225279-chr14:69240661..69244475,4	MCF-7	breast:
3	chr14:69207813..69210397-chr14:69223055..69224594,2	K562	blood:
4	chr14:69218627..69226949-chr14:69256316..69264627,15	K562	blood:
5	chr14:69160612..69162460-chr14:69223212..69225685,2	K562	blood:
6	chr14:69217090..69220380-chr14:69222883..69225939,5	K562	blood:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10138717	0.94[EUR][1000 genomes]
rs10138953	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61985011	0.95[EUR][1000 genomes]
rs61985015	0.87[EUR][1000 genomes]
rs7153919	0.97[EUR][1000 genomes]
rs7155978	0.87[EUR][1000 genomes]
rs7159916	0.97[EUR][1000 genomes]
rs8016829	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456332	chr14:69216412-69230080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv564963	chr14:69216412-69230080	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69214600-69224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69216600-69224200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:69218600-69230800	Enhancers	Fetal Muscle Leg	muscle
6	chr14:69218600-69231600	Enhancers	Fetal Heart	heart
7	chr14:69218800-69225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:69218800-69230800	Enhancers	Fetal Intestine Small	intestine
9	chr14:69219200-69226000	Enhancers	Fetal Intestine Large	intestine
10	chr14:69219800-69223400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:69219800-69223600	Enhancers	Fetal Lung	lung
12	chr14:69219800-69225400	Enhancers	NHDF-Ad	bronchial
13	chr14:69220400-69226800	Enhancers	Fetal Kidney	kidney
14	chr14:69220800-69227400	Enhancers	Fetal Muscle Trunk	muscle
15	chr14:69221200-69223800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:69221200-69224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:69221200-69229200	Weak transcription	Osteobl	bone
18	chr14:69221600-69223600	Weak transcription	Fetal Thymus	thymus
19	chr14:69221600-69223600	Weak transcription	Left Ventricle	heart
20	chr14:69221600-69223800	Weak transcription	Right Atrium	heart
21	chr14:69221600-69229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:69221600-69229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:69221800-69223800	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:69222200-69225000	Enhancers	Fetal Stomach	stomach
25	chr14:69222200-69225200	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:69222400-69224200	Enhancers	Pancreas	Pancrea
27	chr14:69222400-69225000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:69222400-69225200	Enhancers	Primary B cells from cord blood	blood
29	chr14:69222400-69226200	Enhancers	Stomach Mucosa	stomach
30	chr14:69222600-69223800	Flanking Active TSS	HepG2	liver
31	chr14:69222600-69224000	Enhancers	Gastric	stomach
32	chr14:69222600-69224000	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:69222600-69224600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:69222600-69224800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:69222600-69230200	Enhancers	Placenta	Placenta
36	chr14:69222600-69235600	Enhancers	Ovary	ovary
37	chr14:69222800-69224200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:69222800-69224200	Enhancers	Brain Hippocampus Middle	brain
39	chr14:69222800-69225400	Enhancers	Liver	Liver
40	chr14:69222800-69225600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:69222800-69225600	Enhancers	Spleen	Spleen
42	chr14:69222800-69225800	Enhancers	Lung	lung
43	chr14:69222800-69226200	Enhancers	Adipose Nuclei	Adipose
44	chr14:69222800-69227800	Enhancers	HSMMtube	muscle
45	chr14:69223000-69223400	Weak transcription	Right Ventricle	heart
46	chr14:69223000-69227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:69223200-69224400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr14:69223200-69224800	Enhancers	K562	blood
49	chr14:69223200-69225800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:69223200-69226000	Enhancers	Primary hematopoietic stem cells	blood

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