Variant report

Variant	nsv3120
Chromosome Location	chr2:205695611-205713292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:
2	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
3	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:

Extended variants
information (count: 630 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545030120	chr2:205695712-205695713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150837434	chr2:205695731-205695732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191306956	chr2:205695749-205695750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542372496	chr2:205695751-205695752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7586647	chr2:205695790-205695791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529471345	chr2:205695838-205695839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73066678	chr2:205695889-205695890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559658806	chr2:205695905-205695906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78143957	chr2:205695928-205695929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10203626	chr2:205695976-205695977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552006123	chr2:205696040-205696041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373117369	chr2:205696054-205696055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569961787	chr2:205696090-205696091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111586686	chr2:205696125-205696126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530903699	chr2:205696130-205696131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183045929	chr2:205696167-205696168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577676522	chr2:205696208-205696209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545341771	chr2:205696230-205696231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563599908	chr2:205696270-205696271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567740563	chr2:205696282-205696283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549093632	chr2:205696362-205696363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57445021	chr2:205696375-205696376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368257780	chr2:205696422-205696423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35201916	chr2:205696423-205696424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57644865	chr2:205696424-205696425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113863302	chr2:205696425-205696426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187659279	chr2:205696492-205696493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199529202	chr2:205696538-205696539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538564785	chr2:205696568-205696569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542070976	chr2:205696572-205696573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115675204	chr2:205696590-205696591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547443981	chr2:205696604-205696605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72934222	chr2:205696648-205696649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542585075	chr2:205696683-205696684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368532409	chr2:205696699-205696700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554275948	chr2:205696721-205696722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572591027	chr2:205696741-205696742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374802251	chr2:205696742-205696743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541271750	chr2:205696753-205696754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559522766	chr2:205696773-205696774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533184076	chr2:205696821-205696822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551346537	chr2:205696840-205696841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528398830	chr2:205696846-205696847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545395794	chr2:205696857-205696858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563983275	chr2:205696888-205696889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530841906	chr2:205696911-205696912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183503983	chr2:205696926-205696927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139281909	chr2:205696927-205696928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562158678	chr2:205696930-205696931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528594818	chr2:205696973-205696974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205697200-205697400	Enhancers	Pancreas	Pancrea
3	chr2:205697400-205698000	Weak transcription	Pancreas	Pancrea
4	chr2:205698000-205698800	Enhancers	Pancreas	Pancrea
5	chr2:205700400-205701000	Enhancers	Fetal Lung	lung
6	chr2:205705200-205708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:205705400-205706000	Enhancers	Stomach Mucosa	stomach
8	chr2:205705800-205706000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:205705800-205706000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:205705800-205706000	Enhancers	Ovary	ovary
11	chr2:205706000-205706200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:205706000-205707000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:205706000-205707000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:205706200-205707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:205706200-205707400	Weak transcription	Ovary	ovary
16	chr2:205706600-205707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:205706600-205707600	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:205706600-205707600	Enhancers	HUVEC	blood vessel
19	chr2:205706800-205707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:205706800-205707200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:205706800-205707400	Enhancers	NHEK	skin
22	chr2:205706800-205707600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:205706800-205707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:205706800-205707600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:205706800-205707600	Enhancers	NH-A	brain
26	chr2:205706800-205707600	Enhancers	Osteobl	bone
27	chr2:205706800-205708600	Enhancers	Adipose Nuclei	Adipose
28	chr2:205706800-205708600	Enhancers	Fetal Lung	lung
29	chr2:205707000-205707200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:205707000-205707200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:205707000-205707200	Enhancers	A549	lung
32	chr2:205707000-205707400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:205707000-205707600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:205707000-205707600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:205707000-205707600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:205707000-205707600	Enhancers	HSMM	muscle
37	chr2:205707000-205707600	Enhancers	NHDF-Ad	bronchial
38	chr2:205707000-205707800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:205707000-205708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:205707000-205708000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:205707000-205708200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:205707000-205708200	Enhancers	Brain Anterior Caudate	brain
43	chr2:205707000-205708400	Enhancers	Colon Smooth Muscle	Colon
44	chr2:205707000-205708600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:205707000-205708800	Enhancers	NHLF	lung
46	chr2:205707200-205707400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:205707200-205707800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:205707200-205708000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:205707200-205708200	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:205707200-205708200	Flanking Active TSS	A549	lung

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