Variant report

Variant	nsv883233
Chromosome Location	chr5:178675065-178746447
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
2	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
3	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
4	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
5	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
6	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
7	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
8	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
9	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
10	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
11	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
12	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
13	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
14	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
15	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
16	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
17	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
18	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
19	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
20	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
21	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169045	chromatin interactions

Extended variants
information (count: 3471 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3471 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7716112	chr5:178675065-178675066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569877341	chr5:178675085-178675086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74679052	chr5:178675087-178675088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77545365	chr5:178675108-178675109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192769098	chr5:178675219-178675220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555757705	chr5:178675237-178675238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140843949	chr5:178675285-178675286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534744086	chr5:178675310-178675311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553399610	chr5:178675417-178675418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578171873	chr5:178675518-178675519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545478457	chr5:178675535-178675536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7737625	chr5:178675564-178675565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575479993	chr5:178675596-178675597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144597076	chr5:178675637-178675638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184800274	chr5:178675638-178675639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116430077	chr5:178675645-178675646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539897192	chr5:178675657-178675658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138664990	chr5:178675695-178675696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532089157	chr5:178675727-178675728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544679902	chr5:178675743-178675744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550217073	chr5:178675821-178675822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74388431	chr5:178675831-178675832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148896226	chr5:178675835-178675836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143560587	chr5:178675880-178675881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76481501	chr5:178675901-178675902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535316863	chr5:178675926-178675927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148020927	chr5:178675949-178675950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369455798	chr5:178675957-178675958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200234179	chr5:178675972-178675973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201726200	chr5:178675978-178675979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs401795	chr5:178676039-178676040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78923175	chr5:178676091-178676092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs413820	chr5:178676138-178676139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117468946	chr5:178676179-178676180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557454772	chr5:178676188-178676189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545066374	chr5:178676209-178676210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575675219	chr5:178676228-178676229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28891193	chr5:178676346-178676347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554744499	chr5:178676438-178676439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143622449	chr5:178676443-178676444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147282707	chr5:178676514-178676515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188378523	chr5:178676533-178676534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139123813	chr5:178676552-178676553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543919382	chr5:178676563-178676564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112971929	chr5:178676565-178676566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374470696	chr5:178676584-178676585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79230358	chr5:178676598-178676599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191300040	chr5:178676634-178676635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549351469	chr5:178676692-178676693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567805770	chr5:178676770-178676771	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
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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1656 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178670000-178691800	Weak transcription	Right Atrium	heart
2	chr5:178670600-178677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:178670600-178682800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178671200-178682600	Weak transcription	Fetal Stomach	stomach
5	chr5:178671200-178686400	Weak transcription	Fetal Lung	lung
6	chr5:178671400-178682000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:178671400-178685200	Weak transcription	HSMMtube	muscle
8	chr5:178671600-178681600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178671800-178681000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:178672000-178677000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:178672200-178681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:178672200-178682600	Weak transcription	NHLF	lung
13	chr5:178672400-178681000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:178672600-178681000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178673800-178680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:178673800-178684200	Weak transcription	Adipose Nuclei	Adipose
17	chr5:178674200-178677400	Weak transcription	Osteobl	bone
18	chr5:178674200-178681600	Weak transcription	NHDF-Ad	bronchial
19	chr5:178675400-178682200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:178675600-178682400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:178677000-178678200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:178677400-178678000	Strong transcription	Osteobl	bone
23	chr5:178677600-178678000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:178677600-178685400	Weak transcription	HSMM	muscle
25	chr5:178678000-178681400	Weak transcription	Osteobl	bone
26	chr5:178678000-178682400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:178678200-178681000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:178680600-178681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:178680800-178681000	Enhancers	Spleen	Spleen
30	chr5:178681000-178681200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr5:178681000-178681400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:178681000-178681400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:178681000-178681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:178681000-178681600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:178681000-178682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:178681000-178682200	Weak transcription	Spleen	Spleen
37	chr5:178681200-178682000	Enhancers	Fetal Muscle Leg	muscle
38	chr5:178681400-178682000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:178681400-178682000	Enhancers	Osteobl	bone
40	chr5:178681400-178682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:178681600-178681800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:178681600-178681800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:178681600-178681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:178681600-178682000	Enhancers	NHDF-Ad	bronchial
45	chr5:178681600-178682200	Enhancers	Brain Angular Gyrus	brain
46	chr5:178681600-178682200	Enhancers	Brain Hippocampus Middle	brain
47	chr5:178681600-178682600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr5:178681600-178682600	Enhancers	Brain Substantia Nigra	brain
49	chr5:178681600-178685000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:178681800-178682000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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