Variant report

Variant	rs554996419
Chromosome Location	chr14:66963590-66963591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000258561	Chromatin interaction
ENSG00000171723	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3383556	chr14:66963487-66963708	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 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	chr14:66962000-66964600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:66962200-66963800	Enhancers	Dnd41	blood
6	chr14:66962200-66964000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:66962200-66964000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:66962400-66963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:66962400-66963800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:66962400-66964000	Flanking Active TSS	Liver	Liver
11	chr14:66962400-66964400	Enhancers	Primary T cells from cord blood	blood
12	chr14:66962600-66963600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:66962600-66963600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:66962800-66964000	Enhancers	Stomach Mucosa	stomach
15	chr14:66962800-66964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:66962800-66973600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:66962800-66974000	Weak transcription	Aorta	Aorta
18	chr14:66963000-66963600	Enhancers	HepG2	liver
19	chr14:66963000-66964800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:66963000-66965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:66963000-66965200	Weak transcription	K562	blood
22	chr14:66963000-66973600	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:66963200-66963600	Active TSS	Duodenum Mucosa	Duodenum
24	chr14:66963200-66963600	Enhancers	NHEK	skin
25	chr14:66963200-66963800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:66963200-66965200	Weak transcription	Adipose Nuclei	Adipose
27	chr14:66963400-66963600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:66963400-66963800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:66963400-66963800	Flanking Active TSS	GM12878-XiMat	blood
30	chr14:66963400-66964200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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