Variant report

Variant	rs551807951
Chromosome Location	chr14:55368913-55368914
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
2	chr14:55365292..55366794-chr14:55367173..55368937,2	K562	blood:
3	chr14:55368751..55370631-chr14:55518308..55520538,2	K562	blood:
4	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
5	chr14:55030801..55036234-chr14:55366700..55372024,9	MCF-7	breast:
6	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
7	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
8	chr14:55351951..55354870-chr14:55368126..55370512,5	MCF-7	breast:
9	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
10	chr14:54954247..54955899-chr14:55367178..55369078,2	MCF-7	breast:
11	chr14:55032369..55034172-chr14:55367637..55369968,2	K562	blood:
12	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258872	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000197045	Chromatin interaction
ENSG00000265432	Chromatin interaction
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
4	esv3345259	chr14:55368427-55370975	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55367000-55370200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:55367200-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:55367200-55369800	Active TSS	Liver	Liver
4	chr14:55367400-55369800	Active TSS	GM12878-XiMat	blood
5	chr14:55367600-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:55367600-55369400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:55367600-55369400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:55367600-55369400	Flanking Active TSS	Osteobl	bone
9	chr14:55367600-55369600	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:55367600-55370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:55367600-55370200	Active TSS	Primary T cells from cord blood	blood
12	chr14:55367600-55370200	Active TSS	Right Atrium	heart
13	chr14:55367800-55369000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:55367800-55369200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr14:55367800-55370000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr14:55367800-55370000	Active TSS	Fetal Kidney	kidney
17	chr14:55367800-55370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr14:55367800-55370200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr14:55367800-55370200	Active TSS	Colonic Mucosa	Colon
20	chr14:55367800-55370200	Active TSS	Psoas Muscle	Psoas
21	chr14:55367800-55370200	Active TSS	Rectal Smooth Muscle	rectum
22	chr14:55367800-55370200	Active TSS	Right Ventricle	heart
23	chr14:55368000-55369000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr14:55368000-55369000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:55368000-55369400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:55368000-55369800	Active TSS	Spleen	Spleen
29	chr14:55368000-55370000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:55368000-55370000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:55368000-55370000	Active TSS	Esophagus	oesophagus
32	chr14:55368000-55370000	Active TSS	Left Ventricle	heart
33	chr14:55368000-55370000	Active TSS	Lung	lung
34	chr14:55368000-55370000	Active TSS	Small Intestine	intestine
35	chr14:55368000-55370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:55368000-55370200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr14:55368000-55370200	Active TSS	HSMMtube	muscle
38	chr14:55368200-55369200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:55368200-55369800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr14:55368200-55369800	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:55368200-55369800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr14:55368200-55369800	Active TSS	Brain Angular Gyrus	brain
43	chr14:55368200-55369800	Active TSS	NHEK	skin
44	chr14:55368200-55369800	Active TSS	NHLF	lung
45	chr14:55368200-55370000	Active TSS	Aorta	Aorta
46	chr14:55368200-55370000	Active TSS	Brain Anterior Caudate	brain
47	chr14:55368200-55370000	Active TSS	Gastric	stomach
48	chr14:55368200-55370000	Active TSS	Ovary	ovary
49	chr14:55368200-55370000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr14:55368200-55370000	Active TSS	Stomach Mucosa	stomach

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