Variant report

Variant	nsv537972
Chromosome Location	chr5:178070594-178126328
allele	n/a
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:23)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178085944..178088842-chr5:178089934..178092038,2	K562	blood:
2	chr5:178066224..178067875-chr5:178070562..178072155,2	K562	blood:
3	chr5:178068917..178070441-chr5:178081330..178082973,2	MCF-7	breast:
4	chr5:178119500..178121494-chr5:178122164..178124985,2	MCF-7	breast:
5	chr5:178063341..178065728-chr5:178071679..178073201,2	MCF-7	breast:
6	chr5:178082180..178084775-chr5:178097053..178099400,3	MCF-7	breast:
7	chr5:178124799..178126399-chr5:178156119..178159054,2	MCF-7	breast:
8	chr5:178119500..178121494-chr5:178122164..178124985,2	MCF-7	breast:
9	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
10	chr5:178097922..178100302-chr5:178156074..178157784,2	MCF-7	breast:
11	chr5:178072351..178074150-chr5:178081295..178082959,2	MCF-7	breast:
12	chr5:178053031..178055568-chr5:178069602..178071644,2	MCF-7	breast:
13	chr5:178067993..178069564-chr5:178084194..178086392,2	K562	blood:
14	chr5:177775560..177777498-chr5:178072805..178075321,2	MCF-7	breast:
15	chr5:178057455..178059360-chr5:178077963..178080479,2	MCF-7	breast:
16	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
17	chr5:178060070..178062652-chr5:178068693..178071518,2	MCF-7	breast:
18	chr5:178058360..178060808-chr5:178094532..178097215,2	K562	blood:
19	chr5:178082180..178084775-chr5:178097053..178099400,3	MCF-7	breast:
20	chr5:178063343..178066239-chr5:178068092..178071855,3	K562	blood:
21	chr5:178085944..178088842-chr5:178089934..178092038,2	K562	blood:
22	chr5:178051814..178054054-chr5:178071532..178073696,2	MCF-7	breast:
23	chr5:178072351..178074150-chr5:178081295..178082959,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF354A-1	chr5:178123098-178123182	XLOC_005102
2	lnc-ZNF354A-1	chr5:178121721-178121948	XLOC_005102
3	lnc-ZNF354A-1	chr5:178124587-178124696	XLOC_005102
4	lnc-ZNF354A-1	chr5:178122288-178122599	XLOC_005102

No data

Variant related genes	Relation type
ENSG00000113240	chromatin interactions
ENSG00000169131	chromatin interactions

Extended variants
information (count: 2202 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2202 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370459088	chr5:178070631-178070632	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536972001	chr5:178070634-178070635	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536288259	chr5:178070702-178070703	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6871372	chr5:178070722-178070723	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs36008351	chr5:178070753-178070754	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs10066600	chr5:178070803-178070804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs114988313	chr5:178070851-178070852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73804416	chr5:178070865-178070866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577377075	chr5:178070921-178070922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573291573	chr5:178070929-178070930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60385064	chr5:178070930-178070931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562490508	chr5:178070982-178070983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545133361	chr5:178071006-178071007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529788175	chr5:178071007-178071008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149104902	chr5:178071009-178071010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564532312	chr5:178071083-178071084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527244811	chr5:178071105-178071106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34717703	chr5:178071129-178071130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200304512	chr5:178071130-178071131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537689635	chr5:178071146-178071147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77177889	chr5:178071149-178071150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569285407	chr5:178071166-178071167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536731316	chr5:178071172-178071173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549838819	chr5:178071215-178071216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554619229	chr5:178071226-178071227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373449974	chr5:178071262-178071263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563951605	chr5:178071364-178071365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529639316	chr5:178071380-178071381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566545105	chr5:178071411-178071412	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186267031	chr5:178071458-178071459	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112721181	chr5:178071526-178071527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566271439	chr5:178071545-178071546	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4976738	chr5:178071546-178071547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs143194603	chr5:178071549-178071550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556703174	chr5:178071554-178071555	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188826804	chr5:178071560-178071561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541962374	chr5:178071566-178071567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560248151	chr5:178071603-178071604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34171732	chr5:178071636-178071637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138659268	chr5:178071717-178071718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181582683	chr5:178071745-178071746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564263303	chr5:178071747-178071748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10479500	chr5:178071766-178071767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs549740026	chr5:178071787-178071788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374353158	chr5:178071796-178071797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs59759173	chr5:178071831-178071832	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35405889	chr5:178071835-178071836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186435407	chr5:178071923-178071924	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529046138	chr5:178071933-178071934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564776031	chr5:178071957-178071958	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178067400-178070800	Enhancers	HMEC	breast
2	chr5:178067600-178070800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:178067600-178072400	Enhancers	Osteobl	bone
4	chr5:178068800-178070600	Enhancers	HUVEC	blood vessel
5	chr5:178068800-178070600	Enhancers	NH-A	brain
6	chr5:178070200-178071600	Weak transcription	NHDF-Ad	bronchial
7	chr5:178070200-178071600	Weak transcription	NHEK	skin
8	chr5:178070200-178072000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:178070200-178072000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:178070200-178072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:178070200-178078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:178070400-178070800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:178070400-178071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:178070400-178071600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:178070400-178071800	Weak transcription	Hela-S3	cervix
16	chr5:178070600-178071600	Weak transcription	HUVEC	blood vessel
17	chr5:178070600-178071600	Weak transcription	NH-A	brain
18	chr5:178070800-178071200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:178070800-178071200	Weak transcription	HMEC	breast
20	chr5:178070800-178071400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:178071200-178072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:178071200-178072600	Enhancers	HMEC	breast
23	chr5:178071400-178071600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:178071400-178071600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:178071400-178072600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:178071400-178072600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr5:178071600-178071800	Enhancers	NH-A	brain
28	chr5:178071600-178072400	Enhancers	NHDF-Ad	bronchial
29	chr5:178071600-178072400	Enhancers	NHEK	skin
30	chr5:178071600-178072600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:178071600-178072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:178071600-178072600	Enhancers	HUVEC	blood vessel
33	chr5:178071800-178072000	Enhancers	Hela-S3	cervix
34	chr5:178071800-178072200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:178071800-178072200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:178072000-178072400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:178072000-178072400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:178072000-178072400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:178072000-178072400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:178072000-178072400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:178072200-178072600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:178072200-178072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:178072400-178077400	Weak transcription	Osteobl	bone
44	chr5:178072600-178076000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:178072600-178076000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:178072600-178077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:178076000-178076600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:178076000-178077800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:178076400-178077200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:178076600-178077400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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