Variant report

Variant	rs73275024
Chromosome Location	chr14:69927518-69927519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69878685..69880394-chr14:69926350..69928996,2	K562	blood:
2	chr14:69714947..69715448-chr14:69926707..69927678,2	MCF-7	breast:
3	chr14:69709454..69710236-chr14:69926522..69927633,4	K562	blood:
4	chr14:69813202..69813855-chr14:69926762..69927557,4	MCF-7	breast:
5	chr14:69829365..69831341-chr14:69925811..69928602,2	MCF-7	breast:
6	chr14:69863461..69868593-chr14:69924955..69929429,6	MCF-7	breast:
7	chr14:69708308..69710896-chr14:69926995..69929013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000029364	Chromatin interaction
ENSG00000100632	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11844453	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11845419	1.00[AMR][1000 genomes]
rs56315504	1.00[AMR][1000 genomes]
rs59556937	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275019	0.80[AFR][1000 genomes]
rs73275020	0.80[AFR][1000 genomes]
rs73281409	1.00[AMR][1000 genomes]
rs73293379	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69892200-69931400	Weak transcription	K562	blood
2	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
3	chr14:69909000-69933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:69915800-69932600	Weak transcription	Fetal Heart	heart
5	chr14:69918400-69929200	Strong transcription	Primary T cells from cord blood	blood
6	chr14:69919200-69929600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:69919600-69929000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:69919800-69928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:69919800-69929000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:69919800-69929000	Strong transcription	Dnd41	blood
11	chr14:69919800-69929400	Strong transcription	Fetal Intestine Large	intestine
12	chr14:69919800-69929600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:69919800-69929800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:69920000-69928600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:69920000-69928800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:69920000-69929000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:69920000-69929000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:69920000-69929000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:69920000-69929400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:69920000-69929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:69920000-69930400	Weak transcription	Right Ventricle	heart
22	chr14:69920200-69928000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:69920200-69929200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:69920400-69929000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69920600-69929000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:69921000-69930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:69922000-69929400	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:69922200-69931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:69922400-69929000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:69922400-69929400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:69922400-69929400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr14:69922600-69929400	Strong transcription	Fetal Lung	lung
33	chr14:69922800-69927800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:69923000-69928800	Strong transcription	Thymus	Thymus
35	chr14:69923400-69931000	Weak transcription	Stomach Mucosa	stomach
36	chr14:69923600-69930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:69923600-69950400	Weak transcription	Gastric	stomach
38	chr14:69923800-69930400	Weak transcription	HMEC	breast
39	chr14:69923800-69930800	Weak transcription	HepG2	liver
40	chr14:69923800-69931200	Weak transcription	NHDF-Ad	bronchial
41	chr14:69924200-69931400	Weak transcription	Small Intestine	intestine
42	chr14:69924400-69927800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:69924800-69928600	Strong transcription	GM12878-XiMat	blood
44	chr14:69925000-69928200	Strong transcription	Fetal Kidney	kidney
45	chr14:69925400-69927600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:69925400-69931200	Weak transcription	Lung	lung
47	chr14:69925400-69931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:69925400-69939600	Weak transcription	Pancreas	Pancrea
49	chr14:69925400-69942000	Weak transcription	Spleen	Spleen
50	chr14:69925600-69927600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links