Variant report

Variant	nsv600501
Chromosome Location	chr5:178728830-178750377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
2	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:

Extended variants
information (count: 1115 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2457100	chr5:178728830-178728831	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540410023	chr5:178728835-178728836	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568880613	chr5:178728852-178728853	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536223694	chr5:178728873-178728874	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532475425	chr5:178728874-178728875	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572925114	chr5:178728877-178728878	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571898191	chr5:178728887-178728888	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370580	chr5:178728896-178728897	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs412398	chr5:178728907-178728908	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563015260	chr5:178728908-178728909	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62395025	chr5:178728911-178728912	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs563603428	chr5:178728912-178728913	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575257703	chr5:178728918-178728919	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542639645	chr5:178728931-178728932	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2431424	chr5:178728965-178728966	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543814828	chr5:178728966-178728967	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563505414	chr5:178729000-178729001	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528626852	chr5:178729008-178729009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11745755	chr5:178729070-178729071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373216674	chr5:178729078-178729079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546777454	chr5:178729094-178729095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565094234	chr5:178729097-178729098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532169933	chr5:178729130-178729131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376784012	chr5:178729147-178729148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550911261	chr5:178729171-178729172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529619812	chr5:178729188-178729189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138710529	chr5:178729191-178729192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536531233	chr5:178729198-178729199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192967380	chr5:178729200-178729201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566339550	chr5:178729205-178729206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533887593	chr5:178729228-178729229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111939762	chr5:178729233-178729234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578134995	chr5:178729236-178729237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187929705	chr5:178729238-178729239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557111499	chr5:178729264-178729265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528695660	chr5:178729274-178729275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575568172	chr5:178729279-178729280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200869905	chr5:178729288-178729289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201566612	chr5:178729290-178729291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7723777	chr5:178729318-178729319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542905268	chr5:178729321-178729322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561381565	chr5:178729346-178729347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573110308	chr5:178729353-178729354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74494693	chr5:178729356-178729357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191270837	chr5:178729361-178729362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552066854	chr5:178729375-178729376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373763707	chr5:178729376-178729377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55778256	chr5:178729378-178729379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80008279	chr5:178729408-178729409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544450420	chr5:178729411-178729412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178716200-178730800	Weak transcription	HSMM	muscle
2	chr5:178723000-178730200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:178724400-178733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178725000-178729600	Weak transcription	Right Atrium	heart
5	chr5:178727000-178729800	Enhancers	Fetal Muscle Leg	muscle
6	chr5:178727200-178729000	Enhancers	Fetal Lung	lung
7	chr5:178727200-178729200	Enhancers	Fetal Stomach	stomach
8	chr5:178727200-178730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:178727200-178731000	Enhancers	NHLF	lung
10	chr5:178727400-178730600	Enhancers	Placenta	Placenta
11	chr5:178727400-178731600	Enhancers	Adipose Nuclei	Adipose
12	chr5:178727400-178732600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:178727600-178729200	Enhancers	Ovary	ovary
14	chr5:178727800-178730400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178728000-178729000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:178728000-178730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:178728000-178730800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:178728000-178731200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:178728000-178741000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:178728200-178729000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:178728200-178730600	Enhancers	Osteobl	bone
22	chr5:178728400-178729600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:178728400-178729800	Enhancers	Spleen	Spleen
24	chr5:178728600-178729600	Weak transcription	NHDF-Ad	bronchial
25	chr5:178728600-178730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:178728600-178730200	Enhancers	Fetal Muscle Trunk	muscle
27	chr5:178728600-178730600	Enhancers	Lung	lung
28	chr5:178728800-178729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:178728800-178729000	ZNF genes & repeats	Pancreas	Pancrea
30	chr5:178728800-178729200	Enhancers	Right Ventricle	heart
31	chr5:178728800-178731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:178729000-178729600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:178729000-178730000	Weak transcription	Fetal Lung	lung
34	chr5:178729000-178732000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:178729200-178729600	Weak transcription	Fetal Stomach	stomach
36	chr5:178729200-178741000	Weak transcription	Ovary	ovary
37	chr5:178729600-178729800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr5:178729600-178729800	Enhancers	Fetal Stomach	stomach
39	chr5:178729600-178729800	Enhancers	Gastric	stomach
40	chr5:178729600-178730200	Enhancers	Right Atrium	heart
41	chr5:178729600-178731000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:178729600-178731200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:178729600-178733200	Enhancers	NHDF-Ad	bronchial
44	chr5:178729800-178730200	Weak transcription	Fetal Stomach	stomach
45	chr5:178729800-178730800	Weak transcription	Gastric	stomach
46	chr5:178730000-178731000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:178730000-178731200	Enhancers	Fetal Lung	lung
48	chr5:178730200-178730400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:178730200-178730400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:178730200-178730600	Enhancers	Placenta Amnion	Placenta Amnion

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