Variant report

Variant	nsv517619
Chromosome Location	chr2:206115788-206125313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:206124183-206124284	K562	blood:	n/a	n/a
2	CTCF	chr2:206121162-206121232	Lung_OC	lung:	n/a	n/a
3	CTCF	chr2:206122020-206122170	GM12873	blood:	n/a	n/a
4	MYC	chr2:206121959-206122113	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:206118069-206118117	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:206118171-206118175	MCF-7	breast:	n/a	n/a
7	POLR2A	chr2:206118177-206118274	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:206118026-206118170	MCF-7	breast:	n/a	n/a
9	STAT3	chr2:206116144-206116291	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206120308..206123073-chr2:206124121..206126341,2	K562	blood:
2	chr2:206120308..206123073-chr2:206124121..206126341,2	K562	blood:

Variant related genes	Relation type
ENSG00000223890	TF binding region

Extended variants
information (count: 353 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:353 , 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	rs11682188	chr2:206115788-206115789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150860520	chr2:206115814-206115815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542458893	chr2:206115817-206115818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371174455	chr2:206115852-206115853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73982843	chr2:206115862-206115863	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139347013	chr2:206115868-206115869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11677033	chr2:206115893-206115894	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs570800949	chr2:206115941-206115942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531733429	chr2:206115944-206115945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549624326	chr2:206115989-206115990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149608154	chr2:206116019-206116020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs918330	chr2:206116021-206116022	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs35613759	chr2:206116066-206116067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372897696	chr2:206116136-206116137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560885503	chr2:206116148-206116149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553580840	chr2:206116256-206116257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528058616	chr2:206116303-206116304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547061023	chr2:206116308-206116309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565754108	chr2:206116314-206116315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539199437	chr2:206116323-206116324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557731635	chr2:206116334-206116335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191592615	chr2:206116363-206116364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9288361	chr2:206116391-206116392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536163903	chr2:206116431-206116432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556863225	chr2:206116459-206116460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376388151	chr2:206116466-206116467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184288290	chr2:206116526-206116527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189662941	chr2:206116636-206116637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555961216	chr2:206116664-206116665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369693027	chr2:206116680-206116681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542423993	chr2:206116689-206116690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560560917	chr2:206116724-206116725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527779680	chr2:206116747-206116748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192841194	chr2:206116749-206116750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564613620	chr2:206116769-206116770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35497389	chr2:206116785-206116786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538496727	chr2:206116882-206116883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531564117	chr2:206116901-206116902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553171944	chr2:206116921-206116922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549784252	chr2:206116932-206116933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10209747	chr2:206116955-206116956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184675154	chr2:206116997-206116998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370401944	chr2:206117018-206117019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146128468	chr2:206117102-206117103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565783696	chr2:206117114-206117115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539624899	chr2:206117179-206117180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114848610	chr2:206117237-206117238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557002259	chr2:206117247-206117248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569751166	chr2:206117256-206117257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569842166	chr2:206117268-206117269	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206085800-206120800	Weak transcription	Left Ventricle	heart
2	chr2:206094600-206116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:206097200-206118000	Weak transcription	Aorta	Aorta
4	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
5	chr2:206108400-206145200	Weak transcription	HSMM	muscle
6	chr2:206110000-206121400	Weak transcription	Fetal Stomach	stomach
7	chr2:206111400-206124200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
9	chr2:206114200-206121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:206115200-206121800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:206115600-206116200	Strong transcription	Adipose Nuclei	Adipose
12	chr2:206116000-206116200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:206116200-206124600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:206117800-206118000	Weak transcription	Lung	lung
15	chr2:206118000-206118200	ZNF genes & repeats	Aorta	Aorta
16	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
17	chr2:206118400-206119600	Weak transcription	Lung	lung
18	chr2:206121000-206122000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:206122000-206126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:206122600-206123000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:206122800-206123400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:206123600-206124600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:206123800-206124400	Enhancers	NH-A	brain
24	chr2:206124000-206124400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:206124200-206125000	Enhancers	Osteobl	bone
26	chr2:206124200-206126800	Enhancers	Colon Smooth Muscle	Colon
27	chr2:206124400-206126000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:206125000-206126600	Weak transcription	Osteobl	bone

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