Variant report

Variant	rs7159916
Chromosome Location	chr14:69226021-69226022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69224787..69226758-chr14:69226780..69228509,2	MCF-7	breast:
2	chr14:69224134..69226180-chr14:69230728..69233556,2	K562	blood:
3	chr14:69225183..69228244-chr14:69230057..69231827,3	K562	blood:
4	chr14:69217473..69219591-chr14:69224474..69226175,2	MCF-7	breast:
5	chr14:69218627..69226949-chr14:69256316..69264627,15	K562	blood:
6	chr14:69223513..69226037-chr14:69236750..69239337,3	K562	blood:
7	chr14:69221254..69223368-chr14:69224399..69226935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10138717	0.97[EUR][1000 genomes]
rs10138953	0.84[EUR][1000 genomes]
rs28490497	0.97[EUR][1000 genomes]
rs61985011	0.92[EUR][1000 genomes]
rs61985015	0.91[EUR][1000 genomes]
rs7153919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7155978	0.91[EUR][1000 genomes]
rs8016829	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8019389	1.00[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7159916	CD28	trans	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:69218600-69230800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69218600-69231600	Enhancers	Fetal Heart	heart
4	chr14:69218800-69230800	Enhancers	Fetal Intestine Small	intestine
5	chr14:69220400-69226800	Enhancers	Fetal Kidney	kidney
6	chr14:69220800-69227400	Enhancers	Fetal Muscle Trunk	muscle
7	chr14:69221200-69229200	Weak transcription	Osteobl	bone
8	chr14:69221600-69229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:69221600-69229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:69222400-69226200	Enhancers	Stomach Mucosa	stomach
11	chr14:69222600-69230200	Enhancers	Placenta	Placenta
12	chr14:69222600-69235600	Enhancers	Ovary	ovary
13	chr14:69222800-69226200	Enhancers	Adipose Nuclei	Adipose
14	chr14:69222800-69227800	Enhancers	HSMMtube	muscle
15	chr14:69223000-69227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:69223200-69226200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:69223200-69230200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:69223400-69226200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:69223400-69226400	Enhancers	Right Ventricle	heart
20	chr14:69223400-69227000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:69223400-69227800	Enhancers	HSMM	muscle
22	chr14:69224000-69227800	Enhancers	Fetal Lung	lung
23	chr14:69224600-69228000	Weak transcription	Esophagus	oesophagus
24	chr14:69224600-69229400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:69224600-69229600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:69224600-69229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:69224600-69229800	Weak transcription	Thymus	Thymus
28	chr14:69224800-69227200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr14:69224800-69231400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:69224800-69237200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:69225000-69226200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:69225000-69226200	Weak transcription	HUVEC	blood vessel
33	chr14:69225000-69226800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:69225000-69227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:69225000-69227600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:69225000-69228000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:69225000-69229200	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:69225000-69229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:69225000-69237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:69225200-69227200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:69225200-69229200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:69225200-69229200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:69225200-69237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:69225400-69226200	Enhancers	Brain Substantia Nigra	brain
45	chr14:69225400-69226800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr14:69225400-69227200	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:69225400-69229000	Weak transcription	Liver	Liver
48	chr14:69225400-69229200	Weak transcription	Brain Anterior Caudate	brain
49	chr14:69225400-69229800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:69225400-69229800	Weak transcription	Colonic Mucosa	Colon

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