Variant report

Variant	esv3369805
Chromosome Location	chr2:79005494-79007342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569022866	chr2:79005494-79005495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113085066	chr2:79005508-79005509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537930252	chr2:79005527-79005528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558159728	chr2:79005531-79005532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371833918	chr2:79005561-79005562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534549151	chr2:79005596-79005597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554177423	chr2:79005603-79005604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539500180	chr2:79005606-79005607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574337989	chr2:79005611-79005612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543265585	chr2:79005629-79005630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556761136	chr2:79005638-79005639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79686726	chr2:79005679-79005680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149307591	chr2:79005680-79005681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564156925	chr2:79005697-79005698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116673792	chr2:79005701-79005702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184386034	chr2:79005710-79005711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78690982	chr2:79005715-79005716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143592438	chr2:79005735-79005736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548796798	chr2:79005739-79005740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148066363	chr2:79005741-79005742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141611616	chr2:79005744-79005745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551573472	chr2:79005756-79005757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571673138	chr2:79005764-79005765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533945332	chr2:79005777-79005778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551134767	chr2:79005781-79005782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537012956	chr2:79005820-79005821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147143092	chr2:79005894-79005895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374214618	chr2:79005925-79005926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536930280	chr2:79006004-79006005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6746101	chr2:79006072-79006073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569621076	chr2:79006081-79006082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576710768	chr2:79006113-79006114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189534327	chr2:79006117-79006118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6746125	chr2:79006118-79006119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577637292	chr2:79006122-79006123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553080451	chr2:79006123-79006124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574740410	chr2:79006124-79006125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542252998	chr2:79006125-79006126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140350852	chr2:79006128-79006129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559700194	chr2:79006138-79006139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573623999	chr2:79006139-79006140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542510045	chr2:79006148-79006149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562382787	chr2:79006150-79006151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531413964	chr2:79006152-79006153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551505548	chr2:79006159-79006160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374954697	chr2:79006180-79006181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565257638	chr2:79006188-79006189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199549732	chr2:79006201-79006202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527752604	chr2:79006213-79006214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547846281	chr2:79006220-79006221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79003800-79006800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:79006600-79006800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:79006800-79007000	Enhancers	Fetal Stomach	stomach
4	chr2:79006800-79007200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:79006800-79007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:79006800-79007800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:79006800-79008000	Active TSS	Adipose Nuclei	Adipose
8	chr2:79006800-79008200	Active TSS	Colon Smooth Muscle	Colon
9	chr2:79006800-79008200	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr2:79006800-79008200	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:79006800-79008400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:79006800-79008400	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:79006800-79008800	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:79007000-79007400	Enhancers	Gastric	stomach
15	chr2:79007000-79007600	Active TSS	Brain Hippocampus Middle	brain
16	chr2:79007000-79007600	Flanking Active TSS	Fetal Stomach	stomach
17	chr2:79007000-79007800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:79007000-79008000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:79007000-79008000	Active TSS	Aorta	Aorta
20	chr2:79007000-79008000	Active TSS	Fetal Muscle Trunk	muscle
21	chr2:79007000-79008400	Enhancers	Fetal Heart	heart
22	chr2:79007200-79007600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:79007200-79007600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:79007200-79007600	Active TSS	Fetal Intestine Large	intestine
25	chr2:79007200-79007600	Enhancers	Fetal Kidney	kidney
26	chr2:79007200-79007600	Active TSS	HSMMtube	muscle
27	chr2:79007200-79008200	Active TSS	Psoas Muscle	Psoas

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