Variant report

Variant	esv4236
Chromosome Location	chr2:189730546-189740139
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	chr2:189733529..189735881-chr2:189735905..189738655,2	MCF-7	breast:
2	chr2:189733529..189735881-chr2:189735905..189738655,2	MCF-7	breast:

Extended variants
information (count: 364 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370080508	chr2:189730559-189730560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187487740	chr2:189730574-189730575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192331576	chr2:189730673-189730674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566593192	chr2:189730692-189730693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386653651	chr2:189730696-189730697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551325783	chr2:189730697-189730698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371448588	chr2:189730739-189730740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577081954	chr2:189730759-189730760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183660419	chr2:189730760-189730761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147609751	chr2:189730773-189730774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549695544	chr2:189730807-189730808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187756643	chr2:189730829-189730830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538477022	chr2:189730839-189730840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556275407	chr2:189730841-189730842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6752534	chr2:189730889-189730890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571339953	chr2:189730943-189730944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199817507	chr2:189731019-189731020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201313048	chr2:189731023-189731024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113870003	chr2:189731037-189731038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553449271	chr2:189731044-189731045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572011840	chr2:189731076-189731077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542556518	chr2:189731136-189731137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374739708	chr2:189731167-189731168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150211444	chr2:189731217-189731218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575809218	chr2:189731244-189731245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10170845	chr2:189731245-189731246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533209741	chr2:189731277-189731278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545485087	chr2:189731299-189731300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560280807	chr2:189731339-189731340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202085386	chr2:189731344-189731345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549398405	chr2:189731381-189731382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567979108	chr2:189731402-189731403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532067620	chr2:189731403-189731404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374198304	chr2:189731412-189731413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571880060	chr2:189731458-189731459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192269590	chr2:189731470-189731471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530092960	chr2:189731496-189731497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112834097	chr2:189731546-189731547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565521858	chr2:189731636-189731637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536271599	chr2:189731654-189731655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554289705	chr2:189731674-189731675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575897112	chr2:189731724-189731725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536954962	chr2:189731754-189731755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148917776	chr2:189731759-189731760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576671210	chr2:189731778-189731779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545160015	chr2:189731790-189731791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576407632	chr2:189731791-189731792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115981689	chr2:189731801-189731802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527715775	chr2:189731835-189731836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145633488	chr2:189731880-189731881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189728600-189734200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:189732200-189733600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:189733800-189734400	Enhancers	HSMMtube	muscle
4	chr2:189733800-189734600	Enhancers	Aorta	Aorta
5	chr2:189733800-189735000	Enhancers	Fetal Stomach	stomach
6	chr2:189733800-189735200	Enhancers	Fetal Lung	lung
7	chr2:189733800-189735400	Enhancers	NHDF-Ad	bronchial
8	chr2:189733800-189735600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:189733800-189735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:189734000-189734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:189734000-189735200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:189734000-189735200	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:189734000-189735200	Enhancers	NHLF	lung
14	chr2:189734000-189735600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:189734000-189735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:189734000-189735600	Enhancers	Osteobl	bone
17	chr2:189734200-189734400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:189734200-189734600	Enhancers	Adipose Nuclei	Adipose
19	chr2:189734200-189734600	Enhancers	Fetal Heart	heart
20	chr2:189734200-189734600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:189734200-189734800	Enhancers	Ovary	ovary
22	chr2:189734200-189734800	Enhancers	HSMM	muscle
23	chr2:189734200-189735200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:189734200-189735200	Enhancers	NH-A	brain
25	chr2:189734400-189735200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:189734400-189735200	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:189734400-189735400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189734400-189735600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:189734600-189735800	Weak transcription	Aorta	Aorta
30	chr2:189735200-189736200	Weak transcription	Fetal Lung	lung
31	chr2:189735200-189740000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:189736200-189737200	Enhancers	Fetal Lung	lung
33	chr2:189736400-189737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:189736800-189737200	Enhancers	Fetal Kidney	kidney
35	chr2:189736800-189737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:189737200-189743200	Weak transcription	Fetal Lung	lung
37	chr2:189739000-189755600	Weak transcription	Aorta	Aorta
38	chr2:189740000-189740600	Enhancers	Placenta Amnion	Placenta Amnion

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