Variant report

Variant	nsv5155
Chromosome Location	chr5:178075100-178132799
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:17)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178119500..178121494-chr5:178122164..178124985,2	MCF-7	breast:
2	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
3	chr5:178058360..178060808-chr5:178094532..178097215,2	K562	blood:
4	chr5:178068917..178070441-chr5:178081330..178082973,2	MCF-7	breast:
5	chr5:178124799..178126399-chr5:178156119..178159054,2	MCF-7	breast:
6	chr5:178067993..178069564-chr5:178084194..178086392,2	K562	blood:
7	chr5:177775560..177777498-chr5:178072805..178075321,2	MCF-7	breast:
8	chr5:178085944..178088842-chr5:178089934..178092038,2	K562	blood:
9	chr5:178085944..178088842-chr5:178089934..178092038,2	K562	blood:
10	chr5:178103410..178105385-chr5:178107182..178109270,2	MCF-7	breast:
11	chr5:178057455..178059360-chr5:178077963..178080479,2	MCF-7	breast:
12	chr5:178072351..178074150-chr5:178081295..178082959,2	MCF-7	breast:
13	chr5:178130386..178132471-chr5:178136423..178139272,2	K562	blood:
14	chr5:178082180..178084775-chr5:178097053..178099400,3	MCF-7	breast:
15	chr5:178097922..178100302-chr5:178156074..178157784,2	MCF-7	breast:
16	chr5:178082180..178084775-chr5:178097053..178099400,3	MCF-7	breast:
17	chr5:178119500..178121494-chr5:178122164..178124985,2	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	chr5:178122288-178122599	XLOC_005102
3	lnc-ZNF354A-1	chr5:178124587-178124696	XLOC_005102
4	lnc-ZNF354A-1	chr5:178121721-178121948	XLOC_005102

No data

Variant related genes	Relation type
ENSG00000169131	chromatin interactions
ENSG00000113240	chromatin interactions

Extended variants
information (count: 2280 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2280 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149157860	chr5:178075117-178075118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143306864	chr5:178075163-178075164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113675962	chr5:178075185-178075186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554792435	chr5:178075210-178075211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10064009	chr5:178075229-178075230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80315433	chr5:178075240-178075241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538920005	chr5:178075283-178075284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189800078	chr5:178075291-178075292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571470974	chr5:178075325-178075326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181134525	chr5:178075326-178075327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577968626	chr5:178075378-178075379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545381062	chr5:178075392-178075393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563866853	chr5:178075427-178075428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537114346	chr5:178075458-178075459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11949846	chr5:178075474-178075475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575878093	chr5:178075481-178075482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542840065	chr5:178075488-178075489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370883921	chr5:178075525-178075526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528624591	chr5:178075540-178075541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185721800	chr5:178075558-178075559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373148478	chr5:178075561-178075562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532058505	chr5:178075572-178075573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78290681	chr5:178075582-178075583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189747720	chr5:178075608-178075609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35943178	chr5:178075633-178075634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs536529054	chr5:178075636-178075637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573687573	chr5:178075653-178075654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13187977	chr5:178075667-178075668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76418184	chr5:178075678-178075679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201926221	chr5:178075679-178075680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35178365	chr5:178075681-178075682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs533934909	chr5:178075715-178075716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182358087	chr5:178075721-178075722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6889322	chr5:178075737-178075738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11396544	chr5:178075746-178075747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6889328	chr5:178075751-178075752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148848725	chr5:178075753-178075754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35303809	chr5:178075754-178075755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59184345	chr5:178075755-178075756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60213680	chr5:178075758-178075759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148292687	chr5:178075767-178075768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114190061	chr5:178075768-178075769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114571759	chr5:178075798-178075799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186389977	chr5:178075818-178075819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577473300	chr5:178075840-178075841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546438675	chr5:178075845-178075846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564873579	chr5:178075869-178075870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549439505	chr5:178075877-178075878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532221307	chr5:178075878-178075879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543897244	chr5:178075884-178075885	Weak transcription	n/a	n/a	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:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178070200-178078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:178072400-178077400	Weak transcription	Osteobl	bone
3	chr5:178072600-178076000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:178072600-178076000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:178072600-178077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:178076000-178076600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:178076000-178077800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:178076400-178077200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:178076600-178077400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:178077400-178077800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:178077400-178078000	Enhancers	Osteobl	bone
12	chr5:178077400-178079200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:178077600-178078200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:178077600-178078400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:178077800-178078400	Enhancers	NH-A	brain
16	chr5:178078000-178078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:178078000-178078400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178078000-178078400	Flanking Active TSS	Osteobl	bone
19	chr5:178078000-178078800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:178078000-178079000	Enhancers	NHDF-Ad	bronchial
21	chr5:178078200-178078600	Enhancers	HMEC	breast
22	chr5:178078200-178079000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:178078400-178079200	Enhancers	Osteobl	bone
24	chr5:178079000-178082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:178079000-178082400	Weak transcription	NHDF-Ad	bronchial
26	chr5:178079200-178082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:178079200-178082400	Weak transcription	Osteobl	bone
28	chr5:178082000-178083000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:178082200-178083000	Enhancers	Fetal Heart	heart
30	chr5:178082400-178082600	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:178082400-178082600	Enhancers	Osteobl	bone
32	chr5:178082400-178082800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:178082400-178082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:178082400-178082800	Enhancers	NHEK	skin
35	chr5:178082400-178083000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:178082400-178083000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:178082400-178083000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:178082400-178083000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:178082400-178083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:178082400-178083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:178082400-178083000	Enhancers	NHDF-Ad	bronchial
42	chr5:178082600-178082800	Enhancers	Fetal Stomach	stomach
43	chr5:178082600-178083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:178082600-178083000	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr5:178082600-178083000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr5:178082600-178083000	Flanking Active TSS	Osteobl	bone
47	chr5:178088800-178089200	Enhancers	Placenta	Placenta
48	chr5:178088800-178089800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:178089200-178090600	Weak transcription	Placenta	Placenta
50	chr5:178089800-178091400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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