Variant report

Variant	nsv581263
Chromosome Location	chr2:30623123-30626299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30617933..30621462-chr2:30622789..30624514,3	K562	blood:
2	chr2:30623807..30625999-chr2:30630909..30632513,2	K562	blood:
3	chr2:30622154..30624895-chr2:30633768..30635407,2	K562	blood:
4	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11127275	chr2:30623123-30623124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539918013	chr2:30623146-30623147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553190512	chr2:30623147-30623148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188271075	chr2:30623152-30623153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141609399	chr2:30623154-30623155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555659854	chr2:30623180-30623181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112053880	chr2:30623197-30623198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575857574	chr2:30623210-30623211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373655815	chr2:30623293-30623294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71405509	chr2:30623315-30623316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80240601	chr2:30623329-30623330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67491917	chr2:30623330-30623331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35346912	chr2:30623332-30623333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150511026	chr2:30623346-30623347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs829588	chr2:30623391-30623392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578125483	chr2:30623409-30623410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75211358	chr2:30623433-30623434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139852041	chr2:30623440-30623441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77909891	chr2:30623506-30623507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180678631	chr2:30623521-30623522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557823236	chr2:30623543-30623544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74958603	chr2:30623629-30623630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186465721	chr2:30623642-30623643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570814227	chr2:30623643-30623644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539405926	chr2:30623657-30623658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553051717	chr2:30623699-30623700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190894070	chr2:30623768-30623769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535666285	chr2:30623782-30623783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531816420	chr2:30623788-30623789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115861523	chr2:30623849-30623850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575879571	chr2:30623863-30623864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12471197	chr2:30623888-30623889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557002568	chr2:30623903-30623904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556724765	chr2:30623952-30623953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576783034	chr2:30623993-30623994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12471227	chr2:30624016-30624017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559513548	chr2:30624021-30624022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111455438	chr2:30624034-30624035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542072983	chr2:30624043-30624044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376218321	chr2:30624051-30624052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551347744	chr2:30624053-30624054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146224447	chr2:30624065-30624066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564177465	chr2:30624087-30624088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561685157	chr2:30624134-30624135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57437144	chr2:30624164-30624165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546551913	chr2:30624168-30624169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181799144	chr2:30624184-30624185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529163604	chr2:30624200-30624201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544500913	chr2:30624201-30624202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535535152	chr2:30624217-30624218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619000-30624800	Weak transcription	Fetal Heart	heart
2	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
3	chr2:30619600-30623600	Weak transcription	Right Ventricle	heart
4	chr2:30620600-30624000	Weak transcription	Right Atrium	heart
5	chr2:30620600-30625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
7	chr2:30621600-30626000	Weak transcription	Fetal Lung	lung
8	chr2:30621800-30626000	Weak transcription	Left Ventricle	heart
9	chr2:30621800-30626600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:30621800-30626600	Weak transcription	Ovary	ovary
11	chr2:30621800-30627000	Weak transcription	NHDF-Ad	bronchial
12	chr2:30622600-30627000	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:30622800-30623400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:30622800-30623800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30622800-30624600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:30622800-30630400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:30623000-30623800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:30623000-30625200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:30623600-30624400	Enhancers	Right Ventricle	heart
20	chr2:30623800-30627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:30624000-30625000	Enhancers	Right Atrium	heart
22	chr2:30624000-30628000	Enhancers	HSMMtube	muscle
23	chr2:30624400-30626000	Weak transcription	Right Ventricle	heart
24	chr2:30624400-30629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:30624600-30625000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:30624800-30625000	Enhancers	Thymus	Thymus
27	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
28	chr2:30625000-30627000	Weak transcription	Right Atrium	heart
29	chr2:30625000-30628600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:30625200-30626200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:30625200-30627600	Weak transcription	Thymus	Thymus
33	chr2:30625400-30627800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:30625400-30628000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:30626000-30627200	Enhancers	Colonic Mucosa	Colon
37	chr2:30626000-30628200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:30626000-30628400	Enhancers	Fetal Intestine Small	intestine
39	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
40	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
41	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
42	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
43	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:30626200-30627000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:30626200-30628200	Enhancers	Adipose Nuclei	Adipose

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