Variant report

Variant	esv3388594
Chromosome Location	chr3:17315948-17319746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2733487	chr3:17315969-17315970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2596674	chr3:17315986-17315987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2100226	chr3:17315999-17316000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112223298	chr3:17316059-17316060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372838920	chr3:17316064-17316065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373607131	chr3:17316102-17316103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534819887	chr3:17316154-17316155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373006215	chr3:17316173-17316174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138004432	chr3:17316179-17316180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180863851	chr3:17316222-17316223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149486922	chr3:17316235-17316236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543666155	chr3:17316242-17316243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2596675	chr3:17316259-17316260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573862219	chr3:17316297-17316298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542563762	chr3:17316311-17316312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559083654	chr3:17316368-17316369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144567430	chr3:17316391-17316392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114620290	chr3:17316442-17316443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564659930	chr3:17316540-17316541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529058890	chr3:17316565-17316566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185913605	chr3:17316573-17316574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549968452	chr3:17316580-17316581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5846956	chr3:17316599-17316600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398051630	chr3:17316600-17316601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569968719	chr3:17316621-17316622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529556603	chr3:17316624-17316625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549691106	chr3:17316643-17316644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557527851	chr3:17316673-17316674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35641474	chr3:17316683-17316684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565919053	chr3:17316757-17316758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535048042	chr3:17316758-17316759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373286586	chr3:17316797-17316798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138538670	chr3:17316832-17316833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190440531	chr3:17316859-17316860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376119482	chr3:17316860-17316861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537203790	chr3:17316882-17316883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577505762	chr3:17316926-17316927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573829340	chr3:17316958-17316959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540110507	chr3:17316978-17316979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542550631	chr3:17317039-17317040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553268014	chr3:17317064-17317065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572720592	chr3:17317096-17317097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558613840	chr3:17317108-17317109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182264062	chr3:17317113-17317114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186182526	chr3:17317122-17317123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572090565	chr3:17317128-17317129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143027326	chr3:17317237-17317238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2733486	chr3:17317244-17317245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563720820	chr3:17317275-17317276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148769580	chr3:17317276-17317277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17250000-17330200	Weak transcription	Aorta	Aorta
2	chr3:17255200-17363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:17273600-17330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17277600-17328600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:17279400-17330200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:17279800-17329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:17296600-17330200	Weak transcription	Left Ventricle	heart
8	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:17301400-17335400	Weak transcription	Ovary	ovary
10	chr3:17307400-17321800	Weak transcription	Fetal Intestine Small	intestine
11	chr3:17311000-17330400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:17313600-17320800	Weak transcription	Primary B cells from cord blood	blood
13	chr3:17313800-17332200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:17315000-17332400	Weak transcription	GM12878-XiMat	blood
15	chr3:17315200-17321800	Weak transcription	Gastric	stomach
16	chr3:17315800-17330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:17316000-17321400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:17316200-17330200	Weak transcription	Fetal Intestine Large	intestine
19	chr3:17317800-17318000	Enhancers	Psoas Muscle	Psoas
20	chr3:17318000-17320800	Weak transcription	Psoas Muscle	Psoas
21	chr3:17318400-17320800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:17319000-17319800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:17319000-17319800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:17319000-17319800	Enhancers	HSMMtube	muscle
25	chr3:17319200-17319800	Enhancers	HSMM	muscle
26	chr3:17319600-17319800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:17319600-17330200	Weak transcription	Dnd41	blood
28	chr3:17319600-17332400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:17319600-17332400	Weak transcription	Adipose Nuclei	Adipose

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