Variant report

Variant	esv3506426
Chromosome Location	chr17:66971559-66973166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534148273	chr17:66971574-66971575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11077858	chr17:66971575-66971576	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189509705	chr17:66971602-66971603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72851720	chr17:66971664-66971665	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150092936	chr17:66971696-66971697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201511071	chr17:66971702-66971703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199836254	chr17:66971703-66971704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398058854	chr17:66971705-66971706	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556865891	chr17:66971718-66971719	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575444665	chr17:66971747-66971748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143322521	chr17:66971770-66971771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564076236	chr17:66971776-66971777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181940702	chr17:66971827-66971828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11077859	chr17:66971879-66971880	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs561349494	chr17:66971890-66971891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11077860	chr17:66971898-66971899	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs114597843	chr17:66971901-66971902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553494641	chr17:66971964-66971965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117344825	chr17:66971988-66971989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368205804	chr17:66972007-66972008	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536084851	chr17:66972026-66972027	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369248653	chr17:66972038-66972039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72851722	chr17:66972055-66972056	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186593974	chr17:66972084-66972085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532196731	chr17:66972092-66972093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148330421	chr17:66972093-66972094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368678014	chr17:66972107-66972108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200435633	chr17:66972109-66972110	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199809476	chr17:66972118-66972119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374512087	chr17:66972127-66972128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201164310	chr17:66972128-66972129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117692831	chr17:66972157-66972158	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148081859	chr17:66972179-66972180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190608661	chr17:66972193-66972194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565967725	chr17:66972218-66972219	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369941926	chr17:66972243-66972244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200512913	chr17:66972245-66972246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2191212	chr17:66972250-66972251	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148428186	chr17:66972279-66972280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370117036	chr17:66972299-66972300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375689201	chr17:66972334-66972335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183165331	chr17:66972346-66972347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371641163	chr17:66972355-66972356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557555372	chr17:66972359-66972360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201699458	chr17:66972363-66972364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369471537	chr17:66972364-66972365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371765033	chr17:66972374-66972375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557745133	chr17:66972411-66972412	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141443255	chr17:66972444-66972445	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377482274	chr17:66972521-66972522	Strong transcription Weak transcription ZNF genes & repeats	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66965600-66973200	Weak transcription	Brain Substantia Nigra	brain
2	chr17:66965600-66977600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:66965600-66980200	Weak transcription	Brain Anterior Caudate	brain
4	chr17:66965600-66986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:66966200-66977200	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:66966800-66972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:66968200-66971800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:66968400-66972600	Weak transcription	Fetal Lung	lung
9	chr17:66968400-66977200	Weak transcription	NHDF-Ad	bronchial
10	chr17:66969200-66982800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:66969400-66972400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:66969600-66977200	Weak transcription	HepG2	liver
13	chr17:66969800-66971800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr17:66970000-66973600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:66970200-66974200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:66970400-66972400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:66970800-66984000	Weak transcription	Spleen	Spleen
18	chr17:66971000-66987800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:66971200-66974000	Strong transcription	Adipose Nuclei	Adipose
20	chr17:66971200-66974000	Strong transcription	Liver	Liver
21	chr17:66971200-66974000	Strong transcription	Ovary	ovary
22	chr17:66971200-66974000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:66971800-66972400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:66971800-66974000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:66972000-66972800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:66972400-66972600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:66972400-66973600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr17:66972400-66977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:66972600-66972800	Enhancers	Pancreas	Pancrea
30	chr17:66972600-66974000	Strong transcription	Fetal Lung	lung
31	chr17:66972600-66981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:66972800-66977400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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