Variant report

Variant	esv1818359
Chromosome Location	chr3:17529948-17544013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 512 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563074743	chr3:17529950-17529951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531911674	chr3:17529962-17529963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141700634	chr3:17529975-17529976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs386658939	chr3:17529994-17529995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114368642	chr3:17530011-17530012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527714878	chr3:17530039-17530040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547411532	chr3:17530065-17530066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535708381	chr3:17530075-17530076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570578499	chr3:17530141-17530142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147090251	chr3:17530149-17530150	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs80343222	chr3:17530154-17530155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200441002	chr3:17530233-17530234	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531381456	chr3:17530266-17530267	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138359267	chr3:17530318-17530319	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77874994	chr3:17530321-17530322	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181083293	chr3:17530352-17530353	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572270982	chr3:17530353-17530354	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534574527	chr3:17530359-17530360	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557793959	chr3:17530367-17530368	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555653868	chr3:17530413-17530414	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371708145	chr3:17530431-17530432	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577762974	chr3:17530438-17530439	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112606396	chr3:17530448-17530449	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563067556	chr3:17530450-17530451	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190609177	chr3:17530457-17530458	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542139266	chr3:17530486-17530487	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184237774	chr3:17530502-17530503	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115475116	chr3:17530510-17530511	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34043199	chr3:17530530-17530531	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547478414	chr3:17530551-17530552	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142454350	chr3:17530581-17530582	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567610545	chr3:17530588-17530589	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369809448	chr3:17530614-17530615	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150186807	chr3:17530637-17530638	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550248320	chr3:17530666-17530667	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187155150	chr3:17530700-17530701	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565552738	chr3:17530764-17530765	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535610060	chr3:17530816-17530817	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192025226	chr3:17530868-17530869	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565924219	chr3:17530893-17530894	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73153050	chr3:17530903-17530904	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114660832	chr3:17530914-17530915	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577755144	chr3:17530943-17530944	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116572026	chr3:17530968-17530969	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557122447	chr3:17530986-17530987	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573679001	chr3:17531017-17531018	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568880959	chr3:17531087-17531088	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182962312	chr3:17531123-17531124	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572652190	chr3:17531150-17531151	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541371945	chr3:17531161-17531162	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17476200-17530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:17512000-17538000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:17516600-17537600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:17519600-17530200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:17520200-17537000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:17521000-17530200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:17521800-17535600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:17522600-17537200	Weak transcription	Fetal Kidney	kidney
9	chr3:17522800-17530800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:17522800-17535600	Weak transcription	Left Ventricle	heart
11	chr3:17522800-17535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:17522800-17541400	Weak transcription	Ovary	ovary
13	chr3:17523000-17530000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:17523000-17530000	Weak transcription	Thymus	Thymus
15	chr3:17523000-17530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:17523000-17530200	Weak transcription	Fetal Stomach	stomach
17	chr3:17523000-17530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:17523000-17530600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:17523000-17535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:17523000-17535600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:17523000-17541400	Weak transcription	Pancreas	Pancrea
22	chr3:17523000-17570000	Weak transcription	Spleen	Spleen
23	chr3:17523200-17535200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:17523200-17556200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:17523400-17530000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:17524200-17530200	Weak transcription	Fetal Brain Female	brain
27	chr3:17528400-17530800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:17529800-17530600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:17530000-17530800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr3:17530000-17537400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:17530200-17530400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:17530200-17530600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr3:17530200-17530600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr3:17530200-17530800	ZNF genes & repeats	Fetal Brain Female	brain
35	chr3:17530200-17531200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:17530200-17531400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:17530400-17530600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:17530400-17530600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:17530400-17532400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:17530600-17531000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:17530600-17531600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:17530600-17535600	Weak transcription	Fetal Stomach	stomach
43	chr3:17530600-17538000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:17530600-17587600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:17530800-17531200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:17530800-17531200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:17530800-17531200	Enhancers	Osteobl	bone
48	chr3:17530800-17531600	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr3:17530800-17531600	Enhancers	NHDF-Ad	bronchial
50	chr3:17531000-17531200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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