Variant report

Variant	esv3362627
Chromosome Location	chr17:66960307-66962305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183884157	chr17:66960321-66960322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74318243	chr17:66960350-66960351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73364083	chr17:66960356-66960357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538349991	chr17:66960426-66960427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572045859	chr17:66960446-66960447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550116673	chr17:66960459-66960460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188365332	chr17:66960541-66960542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181814780	chr17:66960630-66960631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185576778	chr17:66960681-66960682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62087828	chr17:66960696-66960697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570018016	chr17:66960796-66960797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75864821	chr17:66960806-66960807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140823065	chr17:66960813-66960814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12945526	chr17:66960822-66960823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12940203	chr17:66960839-66960840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12940209	chr17:66960843-66960844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570829810	chr17:66960923-66960924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536679675	chr17:66960936-66960937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373953849	chr17:66960949-66960950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375763201	chr17:66960954-66960955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570309744	chr17:66960959-66960960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373842738	chr17:66960960-66960961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528297858	chr17:66960963-66960964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548263425	chr17:66961124-66961125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569781043	chr17:66961185-66961186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537172003	chr17:66961222-66961223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555897216	chr17:66961233-66961234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577775168	chr17:66961258-66961259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202012861	chr17:66961259-66961260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12936488	chr17:66961293-66961294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12950368	chr17:66961326-66961327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs571923802	chr17:66961339-66961340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576022548	chr17:66961366-66961367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190234840	chr17:66961384-66961385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181890095	chr17:66961385-66961386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79284837	chr17:66961386-66961387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114910254	chr17:66961427-66961428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377069017	chr17:66961448-66961449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565328754	chr17:66961455-66961456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113805507	chr17:66961578-66961579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573860120	chr17:66961585-66961586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542795421	chr17:66961673-66961674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532788771	chr17:66961726-66961727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541342065	chr17:66961762-66961763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560029623	chr17:66961847-66961848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117777292	chr17:66961892-66961893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548152723	chr17:66961935-66961936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530943441	chr17:66961943-66961944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369773690	chr17:66961963-66961964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530875422	chr17:66961964-66961965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66957600-66960400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:66957800-66960400	Weak transcription	Adipose Nuclei	Adipose
3	chr17:66958600-66965000	Weak transcription	Fetal Brain Male	brain
4	chr17:66960400-66960600	Enhancers	Adipose Nuclei	Adipose
5	chr17:66960400-66960800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66960800-66969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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