Variant report

Variant	nsv1065602
Chromosome Location	chr17:50686983-50841286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
2	chr1:165118668..165119319-chr17:50770913..50771715,2	MCF-7	breast:
3	chr17:50746285..50747805-chr17:50749612..50751309,2	K562	blood:
4	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
5	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
6	chr17:50797973..50799788-chr17:50803653..50805561,2	K562	blood:
7	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:

Extended variants
information (count: 2423 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2423 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534770191	chr17:50706811-50706812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554954063	chr17:50706831-50706832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139196366	chr17:50706841-50706842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149946913	chr17:50706875-50706876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554332021	chr17:50706964-50706965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111624672	chr17:50706971-50706972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556872334	chr17:50707044-50707045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576705684	chr17:50707049-50707050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539271754	chr17:50707050-50707051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552859827	chr17:50707097-50707098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561150577	chr17:50707100-50707101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370767411	chr17:50707110-50707111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572902562	chr17:50707209-50707210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536687411	chr17:50707267-50707268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146518226	chr17:50707316-50707317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183785623	chr17:50707322-50707323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2467489	chr17:50707340-50707341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191829905	chr17:50725219-50725220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140321693	chr17:50725240-50725241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74348440	chr17:50725267-50725268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560450745	chr17:50725273-50725274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558285595	chr17:50725280-50725281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376079338	chr17:50725316-50725317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571908684	chr17:50725340-50725341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73364844	chr17:50725347-50725348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554634442	chr17:50725433-50725434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574377902	chr17:50725434-50725435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143567847	chr17:50725460-50725461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79327173	chr17:50725499-50725500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141810165	chr17:50725502-50725503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150592109	chr17:50725509-50725510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565518130	chr17:50725517-50725518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527871463	chr17:50725648-50725649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547937608	chr17:50725653-50725654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35425975	chr17:50725662-50725663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549446075	chr17:50725683-50725684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567718116	chr17:50725690-50725691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183556609	chr17:50725745-50725746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188989770	chr17:50725799-50725800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143024267	chr17:50725827-50725828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538597467	chr17:50725963-50725964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386797721	chr17:50725970-50725971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1492216	chr17:50725977-50725978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75009574	chr17:50726025-50726026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542840033	chr17:50726028-50726029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555127162	chr17:50726034-50726035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567266281	chr17:50726037-50726038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574440153	chr17:50726051-50726052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543053531	chr17:50726058-50726059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556963051	chr17:50726067-50726068	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50706800-50707400	Enhancers	Gastric	stomach
2	chr17:50725200-50727000	Enhancers	Fetal Intestine Small	intestine
3	chr17:50726600-50727200	Enhancers	Primary hematopoietic stem cells	blood
4	chr17:50738000-50738200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr17:50739200-50740200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr17:50739400-50739600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr17:50739600-50740400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr17:50740400-50740600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr17:50742600-50745000	ZNF genes & repeats	HepG2	liver
10	chr17:50745200-50746000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:50745600-50746000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:50746000-50754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:50754200-50756400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:50759000-50759400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr17:50787200-50787800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:50796000-50796400	Active TSS	Duodenum Mucosa	Duodenum
17	chr17:50796400-50796800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr17:50796800-50798400	Active TSS	Duodenum Mucosa	Duodenum
19	chr17:50798400-50801600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:50801600-50802400	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:50802400-50803000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr17:50803000-50803200	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:50803000-50803400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr17:50803200-50809800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:50809400-50810800	Enhancers	Fetal Intestine Small	intestine
26	chr17:50809600-50810600	Enhancers	Fetal Intestine Large	intestine
27	chr17:50809800-50810400	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:50810400-50810800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr17:50810800-50813800	Weak transcription	Fetal Intestine Small	intestine
30	chr17:50813000-50813600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:50813800-50814200	Enhancers	Fetal Intestine Small	intestine
32	chr17:50813800-50814200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr17:50813800-50814600	Enhancers	Fetal Muscle Leg	muscle
34	chr17:50813800-50814600	Enhancers	Psoas Muscle	Psoas
35	chr17:50814400-50814800	Enhancers	Fetal Lung	lung
36	chr17:50814600-50819200	Weak transcription	Psoas Muscle	Psoas
37	chr17:50814600-50825800	Weak transcription	Fetal Muscle Leg	muscle
38	chr17:50814800-50815800	Weak transcription	Fetal Lung	lung
39	chr17:50816000-50816200	Enhancers	Fetal Lung	lung
40	chr17:50816000-50817200	Active TSS	Right Atrium	heart
41	chr17:50816600-50817000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:50816600-50817000	Active TSS	Ovary	ovary
43	chr17:50816600-50817200	Active TSS	Left Ventricle	heart
44	chr17:50816600-50817200	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr17:50817000-50817200	Enhancers	Ovary	ovary
46	chr17:50817200-50817600	Enhancers	Left Ventricle	heart
47	chr17:50817200-50817600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:50819200-50819800	Enhancers	Psoas Muscle	Psoas
49	chr17:50821600-50822200	Enhancers	Liver	Liver
50	chr17:50827200-50835000	Weak transcription	Fetal Muscle Leg	muscle

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