Variant report

Variant	rs11537776
Chromosome Location	chr14:69926959-69926960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69878685..69880394-chr14:69926350..69928996,2	K562	blood:
2	chr14:69833381..69834049-chr14:69926658..69927452,2	MCF-7	breast:
3	chr14:69714947..69715448-chr14:69926707..69927678,2	MCF-7	breast:
4	chr14:69709454..69710236-chr14:69926522..69927633,4	K562	blood:
5	chr14:69708985..69710051-chr14:69926386..69927467,4	MCF-7	breast:
6	chr14:69708990..69709961-chr14:69926423..69927285,4	MCF-7	breast:
7	chr14:69813202..69813855-chr14:69926762..69927557,4	MCF-7	breast:
8	chr14:69619033..69620696-chr14:69925440..69927325,2	MCF-7	breast:
9	chr14:69829365..69831341-chr14:69925811..69928602,2	MCF-7	breast:
10	chr14:69863461..69868593-chr14:69924955..69929429,6	MCF-7	breast:
11	chr14:69725416..69728127-chr14:69925008..69927270,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258520	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000100626	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000139990	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1045301	0.98[ASN][1000 genomes]
rs12050199	0.94[ASN][1000 genomes]
rs12050204	0.94[ASN][1000 genomes]
rs12588551	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589107	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589533	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1455054	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17107026	0.84[ASN][1000 genomes]
rs61980356	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982365	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982389	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982390	0.98[ASN][1000 genomes]
rs61982402	0.96[ASN][1000 genomes]
rs61982404	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982406	0.98[ASN][1000 genomes]
rs61982426	0.98[ASN][1000 genomes]
rs72625683	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625684	0.84[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69892200-69931400	Weak transcription	K562	blood
2	chr14:69902400-69927000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
4	chr14:69909000-69933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:69910400-69927200	Weak transcription	NHEK	skin
6	chr14:69915800-69932600	Weak transcription	Fetal Heart	heart
7	chr14:69916200-69927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69918400-69929200	Strong transcription	Primary T cells from cord blood	blood
9	chr14:69919200-69929600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:69919600-69929000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:69919800-69928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:69919800-69929000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:69919800-69929000	Strong transcription	Dnd41	blood
14	chr14:69919800-69929400	Strong transcription	Fetal Intestine Large	intestine
15	chr14:69919800-69929600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:69919800-69929800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:69920000-69928600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:69920000-69928800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:69920000-69929000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:69920000-69929000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:69920000-69929000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:69920000-69929400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:69920000-69929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:69920000-69930400	Weak transcription	Right Ventricle	heart
25	chr14:69920200-69928000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:69920200-69929200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:69920400-69929000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69920600-69929000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:69921000-69930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:69922000-69929400	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:69922200-69931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:69922400-69929000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:69922400-69929400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:69922400-69929400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:69922600-69929400	Strong transcription	Fetal Lung	lung
36	chr14:69922800-69927800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:69923000-69928800	Strong transcription	Thymus	Thymus
38	chr14:69923400-69927000	Weak transcription	Fetal Brain Male	brain
39	chr14:69923400-69931000	Weak transcription	Stomach Mucosa	stomach
40	chr14:69923600-69930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:69923600-69950400	Weak transcription	Gastric	stomach
42	chr14:69923800-69927000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:69923800-69930400	Weak transcription	HMEC	breast
44	chr14:69923800-69930800	Weak transcription	HepG2	liver
45	chr14:69923800-69931200	Weak transcription	NHDF-Ad	bronchial
46	chr14:69924200-69931400	Weak transcription	Small Intestine	intestine
47	chr14:69924400-69927800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:69924800-69928600	Strong transcription	GM12878-XiMat	blood
49	chr14:69925000-69928200	Strong transcription	Fetal Kidney	kidney
50	chr14:69925400-69927400	Weak transcription	Rectal Smooth Muscle	rectum

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