Variant report

Variant	nsv327725
Chromosome Location	chr5:179120334-179120467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149613971	chr5:179120352-179120353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78419510	chr5:179120356-179120357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77892642	chr5:179120358-179120359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80246920	chr5:179120359-179120360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568035164	chr5:179120361-179120362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75757928	chr5:179120364-179120365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76578648	chr5:179120367-179120368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571761892	chr5:179120369-179120370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555257508	chr5:179120370-179120371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77996975	chr5:179120378-179120379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557727526	chr5:179120440-179120441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575991178	chr5:179120441-179120442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544870339	chr5:179120447-179120448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563150364	chr5:179120449-179120450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575217485	chr5:179120450-179120451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374723273	chr5:179120457-179120458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367940118	chr5:179120463-179120464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372400205	chr5:179120464-179120465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111781297	chr5:179120467-179120468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179106600-179124200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:179106600-179124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:179106800-179123000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:179107400-179121400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:179107600-179123200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:179107600-179123200	Weak transcription	Fetal Thymus	thymus
7	chr5:179107600-179123400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:179108400-179123000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:179108600-179123600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:179114000-179123000	Weak transcription	HepG2	liver
11	chr5:179117000-179121200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:179118400-179125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179120200-179120800	Enhancers	Skeletal Muscle Male	skeletal muscle

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