Variant report

Variant	rs1499518
Chromosome Location	chr14:65173046-65173047
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64972763..64974388-chr14:65172588..65174166,2	MCF-7	breast:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
4	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:
5	chr14:64969978..64971737-chr14:65172793..65174564,2	MCF-7	breast:
6	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
7	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
8	chr14:65170634..65173219-chr14:65206307..65208864,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1499519	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17101988	1.00[ASN][1000 genomes]
rs17101997	0.83[AMR][1000 genomes]
rs190150	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3437023	chr14:65170024-65173072	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65169800-65173600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr14:65170600-65173200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:65170600-65173400	Active TSS	Aorta	Aorta
5	chr14:65170800-65173600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65170800-65174200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr14:65170800-65174400	Active TSS	Brain Angular Gyrus	brain
8	chr14:65171400-65173400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr14:65171600-65174200	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr14:65171800-65173200	Flanking Active TSS	NH-A	brain
11	chr14:65171800-65173400	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr14:65171800-65173600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr14:65171800-65177200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr14:65172000-65173200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr14:65172000-65173200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:65172000-65173200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:65172000-65173400	Flanking Active TSS	Fetal Stomach	stomach
18	chr14:65172000-65173600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:65172000-65173600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr14:65172000-65173800	Flanking Active TSS	Liver	Liver
21	chr14:65172000-65174000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:65172200-65173200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:65172200-65173200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:65172200-65173200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr14:65172200-65173400	Flanking Active TSS	Fetal Lung	lung
26	chr14:65172200-65173600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:65172200-65173600	Flanking Active TSS	Hela-S3	cervix
28	chr14:65172200-65173800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr14:65172200-65174600	Flanking Active TSS	HepG2	liver
30	chr14:65172400-65173200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr14:65172400-65173200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:65172400-65173200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:65172400-65173400	Flanking Active TSS	HMEC	breast
34	chr14:65172400-65173600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:65172400-65173600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:65172400-65173600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:65172400-65173800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr14:65172400-65174000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:65172400-65174000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:65172400-65174000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:65172400-65174000	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr14:65172400-65174000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr14:65172400-65174800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:65172400-65174800	Weak transcription	Lung	lung
45	chr14:65172400-65175200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:65172400-65176800	Enhancers	Small Intestine	intestine
47	chr14:65172600-65173200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:65172600-65173200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:65172600-65173200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr14:65172600-65173200	Flanking Active TSS	Spleen	Spleen

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