Variant report

Variant	esv3522265
Chromosome Location	chr3:22266497-22288869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:
2	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
3	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:
4	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:

Extended variants
information (count: 925 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149991503	chr3:22266610-22266611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59013048	chr3:22266612-22266613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73145069	chr3:22266633-22266634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544949335	chr3:22266706-22266707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564131043	chr3:22266733-22266734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572863015	chr3:22266762-22266763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148753860	chr3:22266764-22266765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375269078	chr3:22266766-22266767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561817489	chr3:22266845-22266846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576868407	chr3:22266849-22266850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529383511	chr3:22266882-22266883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9837348	chr3:22266912-22266913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371526128	chr3:22266918-22266919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2638143	chr3:22266934-22266935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533671978	chr3:22266995-22266996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74618345	chr3:22267037-22267038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575220840	chr3:22267039-22267040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567178004	chr3:22267080-22267081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190324381	chr3:22267095-22267096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547640122	chr3:22267112-22267113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549017158	chr3:22267126-22267127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567342296	chr3:22267127-22267128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78354687	chr3:22267135-22267136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369974118	chr3:22267147-22267148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374398721	chr3:22267153-22267154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544317730	chr3:22267172-22267173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143704890	chr3:22267179-22267180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538457425	chr3:22267195-22267196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553603743	chr3:22267289-22267290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572029324	chr3:22267291-22267292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377180434	chr3:22267295-22267296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540199805	chr3:22267376-22267377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146832750	chr3:22267416-22267417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574056483	chr3:22267419-22267420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112870320	chr3:22267421-22267422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73821335	chr3:22267432-22267433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7647595	chr3:22267493-22267494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201885991	chr3:22267505-22267506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533522461	chr3:22267540-22267541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140675327	chr3:22267566-22267567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545945247	chr3:22267575-22267576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17011043	chr3:22267605-22267606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs55830690	chr3:22267629-22267630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144469251	chr3:22267666-22267667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55676036	chr3:22267688-22267689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185632290	chr3:22267689-22267690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397781060	chr3:22267694-22267695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531425891	chr3:22267734-22267735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146645722	chr3:22267780-22267781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370718797	chr3:22267858-22267859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22266600-22267000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr3:22266600-22267000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:22266600-22267200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:22266800-22267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:22267000-22269200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:22268000-22278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:22269000-22270200	ZNF genes & repeats	Aorta	Aorta
8	chr3:22271200-22271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:22271400-22272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:22272400-22273400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:22272600-22273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:22272800-22273200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:22278200-22278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:22278400-22278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:22278400-22279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:22278800-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:22279200-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
21	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:22286200-22286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:22286200-22287600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:22286200-22287600	Enhancers	Fetal Stomach	stomach
26	chr3:22286200-22287600	Enhancers	HMEC	breast
27	chr3:22286200-22287600	Enhancers	NHDF-Ad	bronchial
28	chr3:22286200-22287600	Enhancers	NHLF	lung
29	chr3:22286200-22288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:22286200-22288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:22286400-22286600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:22286400-22286600	Enhancers	HSMMtube	muscle
33	chr3:22286400-22286800	Enhancers	Adipose Nuclei	Adipose
34	chr3:22286400-22287000	Enhancers	Ovary	ovary
35	chr3:22286400-22287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:22286400-22287200	Enhancers	HSMM	muscle
37	chr3:22286400-22287200	Enhancers	NH-A	brain
38	chr3:22286400-22287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:22286400-22287800	Enhancers	Fetal Lung	lung
40	chr3:22286600-22287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:22286800-22287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:22287200-22287600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:22287400-22287600	Enhancers	HSMMtube	muscle
44	chr3:22287400-22288000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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