Variant report

Variant	nsv3729
Chromosome Location	chr3:22270379-22288323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 745 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185873359	chr3:22270408-22270409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142459626	chr3:22270416-22270417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570752716	chr3:22270429-22270430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190988794	chr3:22270432-22270433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150924298	chr3:22270436-22270437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112764638	chr3:22270483-22270484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568684769	chr3:22270499-22270500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564060386	chr3:22270522-22270523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35174335	chr3:22270542-22270543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183710503	chr3:22270548-22270549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76190120	chr3:22270558-22270559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77525590	chr3:22270599-22270600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112473479	chr3:22270643-22270644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112770590	chr3:22270653-22270654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557973441	chr3:22270680-22270681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573031315	chr3:22270703-22270704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546364606	chr3:22270708-22270709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540428429	chr3:22270712-22270713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147804671	chr3:22270724-22270725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573868218	chr3:22270740-22270741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141327807	chr3:22270782-22270783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369006708	chr3:22270794-22270795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116064202	chr3:22270797-22270798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186597394	chr3:22270811-22270812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369374793	chr3:22270815-22270816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564244141	chr3:22270827-22270828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192389648	chr3:22270837-22270838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528634485	chr3:22270842-22270843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12488937	chr3:22270844-22270845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568724370	chr3:22270871-22270872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146995250	chr3:22270883-22270884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550548524	chr3:22270902-22270903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376392999	chr3:22270917-22270918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539447431	chr3:22270941-22270942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557836860	chr3:22270953-22270954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75261164	chr3:22270955-22270956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533954365	chr3:22270960-22270961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555306782	chr3:22270995-22270996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183391813	chr3:22270996-22270997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187704134	chr3:22271001-22271002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556050105	chr3:22271017-22271018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545132246	chr3:22271022-22271023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189877871	chr3:22271027-22271028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545815305	chr3:22271050-22271051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564210342	chr3:22271097-22271098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115016414	chr3:22271103-22271104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549429940	chr3:22271123-22271124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572128089	chr3:22271140-22271141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138041561	chr3:22271144-22271145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28418335	chr3:22271153-22271154	Weak transcription	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:38 , 50 per page) page: 1

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

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