Variant report

Variant	nsv575555
Chromosome Location	chr17:50628256-50740695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:50674625..50675217-chr17:51227188..51227968,2	MCF-7	breast:
2	chr17:50674880..50675413-chr17:52249846..52250473,2	MCF-7	breast:
3	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
4	chr17:50636033..50636551-chr18:41415783..41416345,2	MCF-7	breast:
5	chr17:50714004..50716976-chr17:50721269..50723262,2	MCF-7	breast:
6	chr17:50675490..50676246-chr5:85861973..85862474,2	MCF-7	breast:

Extended variants
information (count: 372 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs349945	chr17:50653605-50653606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189481333	chr17:50653623-50653624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527424024	chr17:50653632-50653633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs349944	chr17:50653707-50653708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545023869	chr17:50653766-50653767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564762552	chr17:50653791-50653792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578261695	chr17:50653816-50653817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374926896	chr17:50653818-50653819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540931008	chr17:50653896-50653897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375049873	chr17:50653907-50653908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560627697	chr17:50653914-50653915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529506171	chr17:50653931-50653932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143018989	chr17:50653949-50653950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181175454	chr17:50653959-50653960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531956124	chr17:50653981-50653982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571543823	chr17:50674621-50674622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528602837	chr17:50674646-50674647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183363422	chr17:50674674-50674675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372044084	chr17:50674680-50674681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139424386	chr17:50674709-50674710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530808123	chr17:50674730-50674731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550630869	chr17:50674758-50674759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570610292	chr17:50674766-50674767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539288958	chr17:50674780-50674781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12937040	chr17:50674817-50674818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566189846	chr17:50674848-50674849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535189728	chr17:50674861-50674862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142776844	chr17:50674975-50674976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151043228	chr17:50675006-50675007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186545027	chr17:50675011-50675012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540114073	chr17:50675059-50675060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557406916	chr17:50675062-50675063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577514079	chr17:50675085-50675086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113074705	chr17:50675089-50675090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138976286	chr17:50675090-50675091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546374581	chr17:50675111-50675112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115084503	chr17:50675191-50675192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192738709	chr17:50675212-50675213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541981468	chr17:50675223-50675224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11656894	chr17:50675227-50675228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184567971	chr17:50675299-50675300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190041747	chr17:50675307-50675308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371960126	chr17:50675319-50675320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192889174	chr17:50675320-50675321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550842305	chr17:50675350-50675351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563992235	chr17:50675395-50675396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139769049	chr17:50675400-50675401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546353643	chr17:50675444-50675445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184629679	chr17:50675457-50675458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566349649	chr17:50675475-50675476	Enhancers	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50653600-50654000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr17:50674600-50675600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:50677200-50677600	Enhancers	Psoas Muscle	Psoas
4	chr17:50678600-50679000	Active TSS	Fetal Muscle Leg	muscle
5	chr17:50679200-50679600	Enhancers	Fetal Muscle Trunk	muscle
6	chr17:50679800-50680000	Enhancers	Fetal Muscle Leg	muscle
7	chr17:50681000-50684000	Enhancers	HUVEC	blood vessel
8	chr17:50681400-50681800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:50681400-50682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:50681400-50682200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:50682200-50683600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:50682400-50682600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr17:50682600-50683000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr17:50682600-50683000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:50682800-50684000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:50683600-50683800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:50683800-50684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:50684000-50684600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr17:50706800-50707400	Enhancers	Gastric	stomach
20	chr17:50725200-50727000	Enhancers	Fetal Intestine Small	intestine
21	chr17:50726600-50727200	Enhancers	Primary hematopoietic stem cells	blood
22	chr17:50738000-50738200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:50739200-50740200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr17:50739400-50739600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr17:50739600-50740400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr17:50740400-50740600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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