Variant report

Variant	nsv522271
Chromosome Location	chr17:66475586-66478018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66477005..66480333-chr17:66505465..66508900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11658925	chr17:66475586-66475587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9915639	chr17:66475593-66475594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9893871	chr17:66475618-66475619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191718154	chr17:66475651-66475652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11655259	chr17:66475680-66475681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138767863	chr17:66475682-66475683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149313542	chr17:66475690-66475691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75547764	chr17:66475698-66475699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112070834	chr17:66475700-66475701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377097749	chr17:66475719-66475720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2952284	chr17:66475809-66475810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11651450	chr17:66475819-66475820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs201390384	chr17:66475912-66475913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113522962	chr17:66475968-66475969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11652486	chr17:66475997-66475998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11870630	chr17:66476015-66476016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549625052	chr17:66476041-66476042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11653677	chr17:66476046-66476047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538295914	chr17:66476122-66476123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144550552	chr17:66476159-66476160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148467417	chr17:66476160-66476161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536134962	chr17:66476166-66476167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142611458	chr17:66476237-66476238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11653751	chr17:66476258-66476259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533097832	chr17:66476288-66476289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183087129	chr17:66476291-66476292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12950697	chr17:66476313-66476314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147175327	chr17:66476407-66476408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77845996	chr17:66476425-66476426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2952283	chr17:66476427-66476428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs575101871	chr17:66476428-66476429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187627830	chr17:66476443-66476444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563973129	chr17:66476467-66476468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531020357	chr17:66476488-66476489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372288726	chr17:66476521-66476522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532616315	chr17:66476526-66476527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140377093	chr17:66476541-66476542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532062891	chr17:66476542-66476543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377260513	chr17:66476671-66476672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369969601	chr17:66476689-66476690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547017377	chr17:66476690-66476691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552390545	chr17:66476724-66476725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528946890	chr17:66476736-66476737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191691852	chr17:66476742-66476743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548199681	chr17:66476772-66476773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200685235	chr17:66476795-66476796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569887855	chr17:66476801-66476802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2909222	chr17:66476811-66476812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558773478	chr17:66476829-66476830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182827930	chr17:66476840-66476841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66467800-66487000	Weak transcription	Right Atrium	heart
2	chr17:66470800-66478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:66471600-66477000	Weak transcription	HepG2	liver
4	chr17:66477000-66477400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:66477000-66480200	Enhancers	HepG2	liver
6	chr17:66477200-66477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:66477400-66483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:66477600-66479200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:66478000-66478200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:66478000-66478400	Enhancers	Gastric	stomach
11	chr17:66478000-66479600	Enhancers	Ovary	ovary

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