Variant report

Variant	rs528048416
Chromosome Location	chr14:66963009-66963010
allele	A/C
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
2	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
3	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2014B16.3.1-2	chr14:66962916-66963060	ENSG00000258561
2	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963052	ENSG00000258561
3	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963043	ENSG00000258561

No data

Variant related genes	Relation type
ENSG00000171723	Chromatin interaction
ENSG00000258561	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66952200-66973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:66954400-66970200	Weak transcription	Gastric	stomach
3	chr14:66958600-66965600	Weak transcription	Small Intestine	intestine
4	chr14:66962000-66963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:66962000-66964600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:66962200-66963800	Enhancers	Dnd41	blood
7	chr14:66962200-66964000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:66962200-66964000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:66962400-66963200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:66962400-66963200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:66962400-66963200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr14:66962400-66963200	Flanking Active TSS	NHEK	skin
13	chr14:66962400-66963400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:66962400-66963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:66962400-66963800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:66962400-66964000	Flanking Active TSS	Liver	Liver
17	chr14:66962400-66964400	Enhancers	Primary T cells from cord blood	blood
18	chr14:66962600-66963200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:66962600-66963200	Flanking Active TSS	HMEC	breast
20	chr14:66962600-66963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:66962600-66963400	Enhancers	GM12878-XiMat	blood
22	chr14:66962600-66963600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:66962600-66963600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:66962800-66963200	Enhancers	Adipose Nuclei	Adipose
25	chr14:66962800-66963200	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:66962800-66963400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:66962800-66963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:66962800-66964000	Enhancers	Stomach Mucosa	stomach
29	chr14:66962800-66964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:66962800-66973600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:66962800-66974000	Weak transcription	Aorta	Aorta
32	chr14:66963000-66963200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:66963000-66963200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:66963000-66963200	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr14:66963000-66963200	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr14:66963000-66963400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:66963000-66963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:66963000-66963600	Enhancers	HepG2	liver
39	chr14:66963000-66964800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:66963000-66965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:66963000-66965200	Weak transcription	K562	blood
42	chr14:66963000-66973600	Weak transcription	Colon Smooth Muscle	Colon

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