Variant report

Variant	rs55990521
Chromosome Location	chr14:69077442-69077443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69076773..69079330-chr14:69081666..69084664,2	K562	blood:
2	chr14:69075358..69077601-chr14:69259541..69262084,2	MCF-7	breast:
3	chr14:69071037..69077466-chr14:69256300..69263431,10	MCF-7	breast:
4	chr14:69073750..69075278-chr14:69076266..69078869,2	K562	blood:
5	chr14:69075162..69077749-chr14:69093538..69096283,3	MCF-7	breast:
6	chr14:68863006..68865932-chr14:69077018..69079780,3	MCF-7	breast:
7	chr14:68715328..68716236-chr14:69076885..69077730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17106005	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106008	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756585	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756627	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17834971	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902615	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902619	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902620	0.81[AMR][1000 genomes]
rs56104115	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58015193	0.84[ASN][1000 genomes]
rs7153168	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153395	0.87[ASN][1000 genomes]
rs72729553	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72729557	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902069	chr14:69068384-69077457	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv516614	chr14:69069594-69077457	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
2	chr14:69069600-69080000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:69072400-69079400	Enhancers	Fetal Intestine Large	intestine
4	chr14:69072400-69079800	Enhancers	Fetal Stomach	stomach
5	chr14:69072600-69078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:69072600-69079400	Enhancers	Placenta	Placenta
7	chr14:69072800-69079200	Enhancers	Fetal Thymus	thymus
8	chr14:69072800-69079400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:69073400-69079800	Enhancers	Stomach Mucosa	stomach
10	chr14:69074400-69078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:69074400-69078400	Weak transcription	NHDF-Ad	bronchial
12	chr14:69074400-69078800	Enhancers	Primary T cells from cord blood	blood
13	chr14:69074400-69078800	Weak transcription	Liver	Liver
14	chr14:69074600-69078400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:69074600-69078800	Weak transcription	Osteobl	bone
16	chr14:69075000-69077800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69075000-69078400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:69075200-69081200	Weak transcription	Fetal Brain Male	brain
19	chr14:69075400-69077800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:69075400-69077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:69075400-69077800	Weak transcription	Ovary	ovary
22	chr14:69075400-69077800	Weak transcription	Right Atrium	heart
23	chr14:69075400-69077800	Weak transcription	Right Ventricle	heart
24	chr14:69075400-69077800	Enhancers	HepG2	liver
25	chr14:69075400-69078000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:69075400-69078200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:69075400-69078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:69075400-69078400	Weak transcription	Brain Anterior Caudate	brain
29	chr14:69075400-69078400	Weak transcription	Esophagus	oesophagus
30	chr14:69075600-69077800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:69075600-69077800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:69075600-69078200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:69075600-69078400	Weak transcription	Colonic Mucosa	Colon
34	chr14:69075600-69078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:69075600-69078800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:69075600-69080600	Weak transcription	Thymus	Thymus
37	chr14:69075800-69077800	Weak transcription	Fetal Lung	lung
38	chr14:69075800-69079000	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:69076000-69077800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:69076000-69078600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:69076000-69080600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:69076200-69077800	Weak transcription	Primary B cells from cord blood	blood
43	chr14:69076200-69077800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:69076200-69077800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:69076200-69078000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:69076200-69078200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:69076200-69079400	Enhancers	Pancreas	Pancrea
48	chr14:69076400-69077600	Weak transcription	Spleen	Spleen
49	chr14:69076400-69077800	Weak transcription	Adipose Nuclei	Adipose
50	chr14:69076400-69077800	Weak transcription	Stomach Smooth Muscle	stomach

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