Variant report

Variant	esv9852
Chromosome Location	chr2:189267263-189277181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189243159..189245968-chr2:189269525..189271329,2	MCF-7	breast:
2	chr2:189269523..189271101-chr2:189286917..189288426,2	K562	blood:
3	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:
4	chr2:189252210..189254786-chr2:189270636..189272826,2	MCF-7	breast:

Extended variants
information (count: 331 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193278964	chr2:189267280-189267281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372946542	chr2:189267289-189267290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569135031	chr2:189267336-189267337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185147232	chr2:189267374-189267375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377137620	chr2:189267391-189267392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566249907	chr2:189267403-189267404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35036187	chr2:189267446-189267447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531784513	chr2:189267455-189267456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4667224	chr2:189267459-189267460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555268766	chr2:189267511-189267512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576296582	chr2:189267512-189267513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551500336	chr2:189267523-189267524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543023956	chr2:189267541-189267542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558083207	chr2:189267561-189267562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576577778	chr2:189267583-189267584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541113007	chr2:189267584-189267585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78994634	chr2:189267598-189267599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369634223	chr2:189267708-189267709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556267984	chr2:189267737-189267738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559311039	chr2:189267766-189267767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529920256	chr2:189267767-189267768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76269478	chr2:189267787-189267788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563583517	chr2:189267815-189267816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574308297	chr2:189267827-189267828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530775872	chr2:189267840-189267841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550242764	chr2:189267866-189267867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565268572	chr2:189267917-189267918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532686571	chr2:189267931-189267932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547849779	chr2:189267936-189267937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116379220	chr2:189267992-189267993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568344943	chr2:189268051-189268052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536870522	chr2:189268095-189268096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529504464	chr2:189268096-189268097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548456200	chr2:189268105-189268106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114132456	chr2:189268151-189268152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537346221	chr2:189268169-189268170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558171129	chr2:189268174-189268175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72909579	chr2:189268194-189268195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534293107	chr2:189268201-189268202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190389541	chr2:189268251-189268252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553047220	chr2:189268283-189268284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574408948	chr2:189268305-189268306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368545221	chr2:189268411-189268412	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542008756	chr2:189268419-189268420	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563467012	chr2:189268450-189268451	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs371854983	chr2:189268557-189268558	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527604860	chr2:189268579-189268580	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs145907353	chr2:189268630-189268631	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78470443	chr2:189268739-189268740	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138717578	chr2:189268762-189268763	Weak transcription ZNF genes & repeats Enhancers	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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
2	chr2:189251200-189268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189251200-189269000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189251200-189269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189251200-189269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:189251200-189270000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:189251200-189270200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:189256000-189270600	Weak transcription	Fetal Lung	lung
9	chr2:189256400-189269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189261200-189268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:189261400-189269200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:189261400-189269400	Weak transcription	Placenta	Placenta
13	chr2:189261600-189268400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:189261600-189270000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:189261800-189269200	Weak transcription	Fetal Stomach	stomach
16	chr2:189261800-189269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:189263000-189271000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:189263800-189268400	Weak transcription	NHLF	lung
19	chr2:189264000-189269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:189264000-189269600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:189264000-189270200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:189264000-189283800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:189264200-189268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:189264200-189269400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:189264200-189269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189264200-189270400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:189264200-189270400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:189264400-189268400	Weak transcription	NH-A	brain
29	chr2:189264400-189268400	Weak transcription	Osteobl	bone
30	chr2:189264400-189269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:189264400-189274200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:189268400-189268600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:189268400-189268600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:189268400-189268600	Enhancers	NHLF	lung
35	chr2:189268400-189268800	Enhancers	Osteobl	bone
36	chr2:189268400-189269600	Enhancers	NH-A	brain
37	chr2:189268400-189270400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:189268400-189270400	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr2:189268600-189269000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:189268600-189269000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:189268600-189271000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr2:189268600-189279800	Weak transcription	NHLF	lung
43	chr2:189269000-189269600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:189269000-189269600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:189269000-189270600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:189269000-189271000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:189269200-189270200	ZNF genes & repeats	Fetal Stomach	stomach
48	chr2:189269200-189270400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:189269200-189270600	Weak transcription	Gastric	stomach
50	chr2:189269400-189269800	ZNF genes & repeats	Placenta	Placenta

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