Variant report

Variant	esv2763061
Chromosome Location	chr2:205610960-205637114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:

Extended variants
information (count: 838 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532150063	chr2:205610987-205610988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188112497	chr2:205611001-205611002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200191204	chr2:205611011-205611012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536273610	chr2:205611066-205611067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554265327	chr2:205611096-205611097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566602718	chr2:205611149-205611150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547112078	chr2:205611260-205611261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533659362	chr2:205611274-205611275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558575048	chr2:205611275-205611276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578229561	chr2:205611278-205611279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192842412	chr2:205611320-205611321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557718369	chr2:205611321-205611322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185248607	chr2:205611322-205611323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543052729	chr2:205611327-205611328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561114214	chr2:205611389-205611390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528442823	chr2:205611396-205611397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371898006	chr2:205611434-205611435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540395382	chr2:205611465-205611466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9677532	chr2:205611466-205611467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375265492	chr2:205611476-205611477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187349304	chr2:205611482-205611483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192538966	chr2:205611487-205611488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529937490	chr2:205611507-205611508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548424707	chr2:205611524-205611525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566347755	chr2:205611540-205611541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533754117	chr2:205611558-205611559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28822430	chr2:205611563-205611564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558699738	chr2:205611568-205611569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570544917	chr2:205611573-205611574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539262632	chr2:205611580-205611581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557583393	chr2:205611619-205611620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28799707	chr2:205611649-205611650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576044340	chr2:205611723-205611724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542959207	chr2:205611757-205611758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555218005	chr2:205611797-205611798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573174491	chr2:205611835-205611836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540609153	chr2:205611852-205611853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565067384	chr2:205611863-205611864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532468248	chr2:205611870-205611871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544043145	chr2:205611884-205611885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185114309	chr2:205611913-205611914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529849711	chr2:205611923-205611924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548209796	chr2:205611924-205611925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111350671	chr2:205611931-205611932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189390961	chr2:205612005-205612006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527321487	chr2:205612023-205612024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569548270	chr2:205612056-205612057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552178877	chr2:205612095-205612096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570605725	chr2:205612101-205612102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181023261	chr2:205612106-205612107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205597600-205612800	Weak transcription	HSMM	muscle
2	chr2:205603600-205613000	Weak transcription	HSMMtube	muscle
3	chr2:205604000-205613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205604400-205613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:205608600-205612600	Weak transcription	Fetal Lung	lung
6	chr2:205608600-205615000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:205608800-205612800	Weak transcription	Osteobl	bone
8	chr2:205611600-205622800	Weak transcription	Fetal Heart	heart
9	chr2:205612800-205614400	Enhancers	NHDF-Ad	bronchial
10	chr2:205612800-205615000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:205612800-205615400	Enhancers	HSMM	muscle
12	chr2:205612800-205615400	Enhancers	Osteobl	bone
13	chr2:205613000-205613400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:205613000-205613800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:205613000-205614800	Enhancers	NHLF	lung
16	chr2:205613000-205615200	Enhancers	HSMMtube	muscle
17	chr2:205613000-205615400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:205613400-205615200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:205613600-205614600	Enhancers	NHEK	skin
20	chr2:205613600-205615200	Enhancers	NH-A	brain
21	chr2:205613800-205614200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:205613800-205614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:205614200-205614600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:205614200-205615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:205614400-205614800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr2:205614400-205615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:205614400-205615200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:205614800-205615400	Enhancers	NHDF-Ad	bronchial
29	chr2:205615000-205615200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:205615000-205615400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:205615000-205615400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:205615200-205618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:205615200-205618800	Weak transcription	HSMMtube	muscle
34	chr2:205615400-205616400	Weak transcription	Osteobl	bone
35	chr2:205615400-205618400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:205615400-205628600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:205616400-205617200	Enhancers	Osteobl	bone
38	chr2:205618400-205619200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:205618800-205619000	Enhancers	Colon Smooth Muscle	Colon
40	chr2:205618800-205619400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:205618800-205619600	Enhancers	HSMMtube	muscle
42	chr2:205619000-205621800	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:205621800-205622000	Enhancers	Colon Smooth Muscle	Colon
44	chr2:205621800-205622400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:205622000-205622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:205622000-205622800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:205622400-205622800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:205622800-205623000	Enhancers	Ovary	ovary
49	chr2:205622800-205623200	Enhancers	Fetal Heart	heart
50	chr2:205622800-205623200	Enhancers	Pancreas	Pancrea

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