Variant report

Variant	esv3488204
Chromosome Location	chr3:17539698-17546896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557069908	chr3:17539796-17539797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567699979	chr3:17539798-17539799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189710472	chr3:17539803-17539804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553479248	chr3:17539837-17539838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183435221	chr3:17539868-17539869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6786988	chr3:17539876-17539877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558720850	chr3:17539897-17539898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111377410	chr3:17539950-17539951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187704002	chr3:17539951-17539952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544527643	chr3:17539958-17539959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113620734	chr3:17539959-17539960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560523592	chr3:17539973-17539974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116755668	chr3:17539980-17539981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144931792	chr3:17540008-17540009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35039479	chr3:17540009-17540010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559776225	chr3:17540016-17540017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532081132	chr3:17540017-17540018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551678594	chr3:17540101-17540102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571849788	chr3:17540102-17540103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114058542	chr3:17540134-17540135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562354663	chr3:17540158-17540159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530986907	chr3:17540180-17540181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73153064	chr3:17540183-17540184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370512964	chr3:17540184-17540185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138760726	chr3:17540199-17540200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141236038	chr3:17540235-17540236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115444312	chr3:17540253-17540254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539171964	chr3:17540303-17540304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561990768	chr3:17540317-17540318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575422237	chr3:17540330-17540331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537664786	chr3:17540334-17540335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534686391	chr3:17540370-17540371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554406704	chr3:17540429-17540430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116069733	chr3:17540454-17540455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75356537	chr3:17540475-17540476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113082759	chr3:17540502-17540503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559762217	chr3:17540526-17540527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576854976	chr3:17540533-17540534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564458131	chr3:17540579-17540580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192218338	chr3:17540598-17540599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565316619	chr3:17540661-17540662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67268894	chr3:17540686-17540687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183530614	chr3:17540697-17540698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115017016	chr3:17540722-17540723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554285495	chr3:17540747-17540748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565501254	chr3:17540785-17540786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144043376	chr3:17540863-17540864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373920946	chr3:17540918-17540919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530423088	chr3:17540930-17540931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547016189	chr3:17540956-17540957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17522800-17541400	Weak transcription	Ovary	ovary
2	chr3:17523000-17541400	Weak transcription	Pancreas	Pancrea
3	chr3:17523000-17570000	Weak transcription	Spleen	Spleen
4	chr3:17523200-17556200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:17530600-17587600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:17532000-17542000	Weak transcription	A549	lung
7	chr3:17532600-17543800	Weak transcription	Liver	Liver
8	chr3:17533200-17550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:17533400-17549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:17533600-17547200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:17534000-17546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:17534000-17559800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:17534200-17561600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:17535600-17552000	Weak transcription	Primary T cells from cord blood	blood
15	chr3:17536000-17549800	Weak transcription	Fetal Lung	lung
16	chr3:17536200-17555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:17536400-17543400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:17536400-17559800	Weak transcription	Adipose Nuclei	Adipose
19	chr3:17536400-17562600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:17536400-17568800	Weak transcription	GM12878-XiMat	blood
21	chr3:17536400-17574800	Weak transcription	Dnd41	blood
22	chr3:17536600-17541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:17536600-17544000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:17536600-17544200	Weak transcription	Right Ventricle	heart
25	chr3:17536600-17547600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:17536600-17559600	Weak transcription	Fetal Stomach	stomach
27	chr3:17536600-17560400	Weak transcription	Fetal Intestine Large	intestine
28	chr3:17536600-17561600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:17536600-17562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:17536600-17588000	Weak transcription	Left Ventricle	heart
31	chr3:17536800-17543400	Weak transcription	Fetal Intestine Small	intestine
32	chr3:17536800-17547800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:17537200-17560000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:17538600-17543200	Weak transcription	Primary B cells from cord blood	blood
35	chr3:17538600-17546800	Weak transcription	Aorta	Aorta
36	chr3:17538600-17551600	Weak transcription	Placenta	Placenta
37	chr3:17538800-17540800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:17540800-17541600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:17541000-17541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:17541400-17541600	Enhancers	Ovary	ovary
41	chr3:17541400-17542200	Enhancers	Stomach Mucosa	stomach
42	chr3:17541600-17543000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:17541800-17545200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:17542000-17542600	Enhancers	A549	lung
45	chr3:17542000-17542600	Enhancers	HUVEC	blood vessel
46	chr3:17542000-17543000	Enhancers	NHEK	skin
47	chr3:17542200-17542800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:17542200-17542800	Enhancers	HMEC	breast
49	chr3:17542600-17546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:17542600-17546800	Weak transcription	HUVEC	blood vessel

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