Variant report

Variant	rs540088894
Chromosome Location	chr5:179160420-179160421
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179157063..179161797-chr5:179244181..179249709,13	MCF-7	breast:
2	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
3	chr5:179159153..179161624-chr5:179334257..179336629,3	MCF-7	breast:
4	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
5	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
6	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
7	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
8	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
9	chr5:179124035..179127505-chr5:179157238..179162405,12	MCF-7	breast:
10	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
11	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
12	chr5:179148995..179151218-chr5:179158028..179161139,3	MCF-7	breast:
13	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
14	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
15	chr5:179152255..179157364-chr5:179157617..179161141,8	K562	blood:
16	chr5:179102368..179107935-chr5:179157286..179161555,5	K562	blood:
17	chr5:179104047..179107935-chr5:179157751..179161258,3	K562	blood:
18	chr5:179159613..179162067-chr5:179246269..179249324,3	MCF-7	breast:
19	chr5:179160317..179162813-chr5:179497518..179499972,2	K562	blood:
20	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
21	chr5:179130512..179134437-chr5:179159497..179161438,3	MCF-7	breast:
22	chr5:179143486..179153989-chr5:179156108..179164461,19	MCF-7	breast:
23	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
24	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
25	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
26	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
5	esv3413500	chr5:179159171-179161719	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179158600-179161200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:179158800-179160800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:179158800-179160800	Active TSS	Thymus	Thymus
4	chr5:179158800-179161200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:179158800-179161400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:179158800-179161400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr5:179159000-179160800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:179159000-179161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:179159000-179161000	Active TSS	Brain Substantia Nigra	brain
10	chr5:179159000-179161000	Active TSS	Small Intestine	intestine
11	chr5:179159000-179161000	Active TSS	A549	lung
12	chr5:179159000-179161200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:179159000-179161200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:179159000-179161200	Active TSS	K562	blood
15	chr5:179159000-179161400	Active TSS	HepG2	liver
16	chr5:179159000-179161600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:179159000-179161600	Active TSS	Right Atrium	heart
18	chr5:179159000-179162000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:179159000-179162000	Active TSS	Colonic Mucosa	Colon
20	chr5:179159200-179160600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179159200-179160800	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr5:179159200-179160800	Active TSS	Brain Hippocampus Middle	brain
23	chr5:179159200-179160800	Active TSS	Placenta	Placenta
24	chr5:179159200-179160800	Active TSS	Rectal Smooth Muscle	rectum
25	chr5:179159200-179160800	Active TSS	Stomach Smooth Muscle	stomach
26	chr5:179159200-179160800	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:179159200-179161000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:179159200-179161000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:179159200-179161000	Active TSS	Aorta	Aorta
30	chr5:179159200-179161000	Active TSS	Duodenum Mucosa	Duodenum
31	chr5:179159200-179161000	Active TSS	Esophagus	oesophagus
32	chr5:179159200-179161000	Active TSS	Fetal Brain Female	brain
33	chr5:179159200-179161000	Active TSS	Fetal Intestine Large	intestine
34	chr5:179159200-179161000	Active TSS	Left Ventricle	heart
35	chr5:179159200-179161000	Active TSS	Lung	lung
36	chr5:179159200-179161200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:179159200-179161200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:179159200-179161200	Active TSS	Psoas Muscle	Psoas
39	chr5:179159200-179161200	Active TSS	HSMM	muscle
40	chr5:179159200-179161400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:179159200-179161400	Active TSS	Brain Germinal Matrix	brain
42	chr5:179159200-179161600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:179159200-179161600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:179159200-179161600	Active TSS	Ovary	ovary
45	chr5:179159200-179161600	Active TSS	Right Ventricle	heart
46	chr5:179159200-179161800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr5:179159200-179162000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:179159200-179162000	Active TSS	NHLF	lung
49	chr5:179159400-179160600	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr5:179159400-179160600	Active TSS	Primary B cells from cord blood	blood

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