Variant report

Variant	nsv1065519
Chromosome Location	chr17:50494829-50585822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:50460518..50461546-chr17:50547645..50548624,5	MCF-7	breast:
2	chr1:121484725..121485412-chr17:50577787..50578626,2	MCF-7	breast:
3	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:
4	chr17:50570903..50573840-chr17:50575722..50577481,2	MCF-7	breast:

Extended variants
information (count: 779 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370325703	chr17:50495012-50495013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59642359	chr17:50495024-50495025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572883218	chr17:50495032-50495033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377064403	chr17:50495045-50495046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561610007	chr17:50495046-50495047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574962524	chr17:50495051-50495052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543685977	chr17:50495103-50495104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563931081	chr17:50495104-50495105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532466410	chr17:50495105-50495106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552263614	chr17:50495123-50495124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559277448	chr17:50495126-50495127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9709173	chr17:50495144-50495145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548070253	chr17:50495156-50495157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568297888	chr17:50495160-50495161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530710178	chr17:50495166-50495167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550471664	chr17:50495197-50495198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184837974	chr17:50495206-50495207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539497257	chr17:50495208-50495209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201830956	chr17:50495216-50495217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566468820	chr17:50495225-50495226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199939476	chr17:50495226-50495227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200876980	chr17:50495231-50495232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184025405	chr17:50495267-50495268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4413009	chr17:50495313-50495314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147772706	chr17:50495317-50495318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376979674	chr17:50495345-50495346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185988801	chr17:50495347-50495348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545891482	chr17:50495348-50495349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559459703	chr17:50495388-50495389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190661951	chr17:50495392-50495393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541848954	chr17:50495402-50495403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562135540	chr17:50495439-50495440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28654708	chr17:50495467-50495468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377086025	chr17:50495479-50495480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550858555	chr17:50495493-50495494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62068747	chr17:50495502-50495503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4794345	chr17:50495504-50495505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146968209	chr17:50495579-50495580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547885073	chr17:50495583-50495584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566601541	chr17:50495642-50495643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535568429	chr17:50495712-50495713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566158769	chr17:50495716-50495717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114048896	chr17:50495759-50495760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568844556	chr17:50495771-50495772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537300120	chr17:50495795-50495796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557683084	chr17:50495842-50495843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577014976	chr17:50495850-50495851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182906474	chr17:50495869-50495870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187820242	chr17:50495877-50495878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62068748	chr17:50495880-50495881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50495000-50496200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr17:50496200-50496600	Enhancers	Gastric	stomach
3	chr17:50496200-50496600	Enhancers	Pancreas	Pancrea
4	chr17:50496200-50496600	Enhancers	Psoas Muscle	Psoas
5	chr17:50496200-50496800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr17:50496200-50496800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr17:50496200-50497400	Enhancers	HepG2	liver
8	chr17:50496200-50497600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:50496200-50497600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr17:50496200-50497600	Enhancers	Liver	Liver
11	chr17:50496400-50496800	Enhancers	Brain Angular Gyrus	brain
12	chr17:50496400-50497000	Enhancers	Adipose Nuclei	Adipose
13	chr17:50496600-50497000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr17:50496600-50497400	Weak transcription	Gastric	stomach
15	chr17:50497000-50497400	Enhancers	Brain Germinal Matrix	brain
16	chr17:50497400-50497800	Enhancers	Gastric	stomach
17	chr17:50497800-50498000	Weak transcription	Gastric	stomach
18	chr17:50498000-50498400	Enhancers	Gastric	stomach
19	chr17:50513800-50514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr17:50513800-50514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:50513800-50514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr17:50514000-50515200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr17:50514400-50514800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr17:50522600-50523000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr17:50523000-50525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:50525400-50526000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr17:50525600-50526000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr17:50525600-50526000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr17:50525600-50526200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr17:50526000-50527400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:50526000-50528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:50526000-50528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:50526200-50527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:50526400-50528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:50527400-50527600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:50527400-50527600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:50527400-50527600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr17:50527600-50527800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr17:50527600-50528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:50527800-50528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:50528200-50529600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr17:50528400-50528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr17:50528400-50529400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr17:50528400-50529600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr17:50528400-50529600	Enhancers	Brain Germinal Matrix	brain
46	chr17:50528400-50531600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr17:50528600-50529000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr17:50528600-50529200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:50528600-50529400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr17:50528600-50529600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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