Variant report

Variant	nsv876622
Chromosome Location	chr3:22268417-22348144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22339328..22340955-chr3:22342390..22345149,2	K562	blood:
2	chr3:22339328..22340955-chr3:22342390..22345149,2	K562	blood:
3	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
4	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:
5	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
6	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:

Extended variants
information (count: 1904 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1904 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1491879	chr3:22268417-22268418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145894192	chr3:22268450-22268451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565584654	chr3:22268454-22268455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536129740	chr3:22268456-22268457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566947390	chr3:22268474-22268475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368482609	chr3:22268489-22268490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569934084	chr3:22268545-22268546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537820549	chr3:22268565-22268566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556556321	chr3:22268575-22268576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377162426	chr3:22268584-22268585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578129497	chr3:22268594-22268595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556601019	chr3:22268613-22268614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539679707	chr3:22268630-22268631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554399906	chr3:22268640-22268641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572631633	chr3:22268643-22268644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113145843	chr3:22268644-22268645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571301409	chr3:22268656-22268657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142385853	chr3:22268678-22268679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555751593	chr3:22268679-22268680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553117088	chr3:22268683-22268684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193018675	chr3:22268684-22268685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576690980	chr3:22268685-22268686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375931390	chr3:22268686-22268687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182250346	chr3:22268716-22268717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564565691	chr3:22268723-22268724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138793468	chr3:22268734-22268735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547130744	chr3:22268739-22268740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559029649	chr3:22268782-22268783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575257849	chr3:22268785-22268786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142827456	chr3:22268793-22268794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537802171	chr3:22268804-22268805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116015345	chr3:22268847-22268848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186565925	chr3:22268853-22268854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549907331	chr3:22268892-22268893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577758178	chr3:22268914-22268915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11914536	chr3:22268924-22268925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147426100	chr3:22268946-22268947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148073625	chr3:22268982-22268983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74676311	chr3:22269013-22269014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115866812	chr3:22269043-22269044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555178764	chr3:22269111-22269112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374683730	chr3:22269139-22269140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191197593	chr3:22269153-22269154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576639385	chr3:22269162-22269163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368202929	chr3:22269163-22269164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544142674	chr3:22269168-22269169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140902273	chr3:22269183-22269184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1491878	chr3:22269188-22269189	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576385159	chr3:22269237-22269238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141833927	chr3:22269261-22269262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22267000-22269200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:22268000-22278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22269000-22270200	ZNF genes & repeats	Aorta	Aorta
4	chr3:22271200-22271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:22271400-22272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:22272400-22273400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:22272600-22273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:22272800-22273200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:22278200-22278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:22278400-22278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:22278400-22279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:22278800-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:22279200-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
17	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:22286200-22286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:22286200-22287600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:22286200-22287600	Enhancers	Fetal Stomach	stomach
22	chr3:22286200-22287600	Enhancers	HMEC	breast
23	chr3:22286200-22287600	Enhancers	NHDF-Ad	bronchial
24	chr3:22286200-22287600	Enhancers	NHLF	lung
25	chr3:22286200-22288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:22286200-22288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:22286400-22286600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:22286400-22286600	Enhancers	HSMMtube	muscle
29	chr3:22286400-22286800	Enhancers	Adipose Nuclei	Adipose
30	chr3:22286400-22287000	Enhancers	Ovary	ovary
31	chr3:22286400-22287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:22286400-22287200	Enhancers	HSMM	muscle
33	chr3:22286400-22287200	Enhancers	NH-A	brain
34	chr3:22286400-22287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:22286400-22287800	Enhancers	Fetal Lung	lung
36	chr3:22286600-22287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:22286800-22287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:22287200-22287600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:22287400-22287600	Enhancers	HSMMtube	muscle
40	chr3:22287400-22288000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:22292600-22294600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:22292800-22294400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:22293000-22293400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr3:22293000-22294200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:22293000-22294400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:22293200-22294400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:22303000-22303600	Enhancers	Fetal Lung	lung
48	chr3:22303000-22303600	Enhancers	Fetal Stomach	stomach
49	chr3:22303600-22304000	Weak transcription	Fetal Lung	lung
50	chr3:22303600-22304000	Weak transcription	Fetal Stomach	stomach

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