Variant report

Variant	nsv980599
Chromosome Location	chr5:179878493-179891237
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:179805841..179808763-chr5:179880689..179883410,2	MCF-7	breast:
2	chr5:179890863..179893411-chr5:179896364..179898839,3	K562	blood:
3	chr5:179891217..179897148-chr5:179918001..179923308,6	MCF-7	breast:
4	chr5:179887683..179889324-chr5:179889418..179891911,2	K562	blood:
5	chr5:179770572..179772662-chr5:179890635..179892698,2	MCF-7	breast:
6	chr5:179890341..179892861-chr5:179894283..179898100,3	MCF-7	breast:
7	chr5:179882912..179885325-chr5:179894280..179896586,2	MCF-7	breast:
8	chr5:179885057..179887954-chr5:179889094..179891579,3	MCF-7	breast:
9	chr5:179778666..179781236-chr5:179881517..179884187,2	MCF-7	breast:
10	chr5:179880821..179884780-chr5:179891609..179894265,3	MCF-7	breast:
11	chr5:179716783..179719079-chr5:179889653..179891805,2	MCF-7	breast:
12	chr5:179887683..179889324-chr5:179889418..179891911,2	K562	blood:
13	chr5:179885057..179887954-chr5:179889094..179891579,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050748	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000113300	chromatin interactions

Extended variants
information (count: 485 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572819536	chr5:179880805-179880806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141511921	chr5:179880947-179880948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80247305	chr5:179880950-179880951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532095142	chr5:179880957-179880958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74995570	chr5:179880984-179880985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74490386	chr5:179880987-179880988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59041071	chr5:179880993-179880994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397948809	chr5:179881001-179881002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531356486	chr5:179881014-179881015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529171308	chr5:179881080-179881081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547989071	chr5:179881083-179881084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184343111	chr5:179881112-179881113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527629101	chr5:179881140-179881141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547453090	chr5:179881175-179881176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565123011	chr5:179881186-179881187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78085847	chr5:179881200-179881201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35529422	chr5:179881205-179881206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs58186651	chr5:179881216-179881217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374827072	chr5:179881254-179881255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528133716	chr5:179881261-179881262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570174127	chr5:179881269-179881270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190807304	chr5:179881284-179881285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543900081	chr5:179881292-179881293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150871156	chr5:179881324-179881325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572758319	chr5:179881371-179881372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79902217	chr5:179881372-179881373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11746067	chr5:179881373-179881374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576742104	chr5:179881379-179881380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11746068	chr5:179881380-179881381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562201227	chr5:179881384-179881385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182043990	chr5:179881388-179881389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541619296	chr5:179881432-179881433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6886960	chr5:179881433-179881434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs185408547	chr5:179881478-179881479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542097157	chr5:179881480-179881481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189024000	chr5:179881488-179881489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564226663	chr5:179881504-179881505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533319399	chr5:179881544-179881545	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117837708	chr5:179881615-179881616	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570162131	chr5:179881658-179881659	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535984559	chr5:179881674-179881675	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549586565	chr5:179881737-179881738	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181420057	chr5:179881738-179881739	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534925229	chr5:179881761-179881762	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139518997	chr5:179881793-179881794	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551122043	chr5:179881801-179881802	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78743999	chr5:179881815-179881816	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs578192786	chr5:179881833-179881834	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6891729	chr5:179881841-179881842	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73812297	chr5:179881873-179881874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179880800-179882400	Enhancers	Brain Germinal Matrix	brain
2	chr5:179881400-179881800	Enhancers	Fetal Brain Male	brain
3	chr5:179883400-179884200	Enhancers	GM12878-XiMat	blood
4	chr5:179883400-179884200	Enhancers	HepG2	liver
5	chr5:179885200-179885400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179885200-179886000	Enhancers	Lung	lung
7	chr5:179885200-179895800	Weak transcription	Right Atrium	heart
8	chr5:179885800-179886800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:179886000-179886600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr5:179887600-179889000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:179887800-179888600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:179887800-179889000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:179889000-179890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:179890200-179890400	Enhancers	Hela-S3	cervix
15	chr5:179890200-179891600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:179890400-179891400	Weak transcription	Hela-S3	cervix
17	chr5:179890600-179890800	ZNF genes & repeats	Spleen	Spleen
18	chr5:179890800-179894200	Weak transcription	Spleen	Spleen
19	chr5:179891200-179891800	Enhancers	Colonic Mucosa	Colon
20	chr5:179891200-179892000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:179891200-179894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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