Variant report

Variant	esv2762680
Chromosome Location	chr2:77452866-77507404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 375 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:375 , 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	rs538931162	chr2:77452877-77452878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554048712	chr2:77452889-77452890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202068657	chr2:77452939-77452940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35973657	chr2:77452941-77452942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201172006	chr2:77452942-77452943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397870044	chr2:77452943-77452944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572154537	chr2:77452963-77452964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367842807	chr2:77453116-77453117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560839717	chr2:77453128-77453129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148334142	chr2:77453131-77453132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576051599	chr2:77453195-77453196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141464032	chr2:77453196-77453197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537112191	chr2:77453250-77453251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181205432	chr2:77453282-77453283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370431989	chr2:77453289-77453290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185744512	chr2:77453346-77453347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150837529	chr2:77453425-77453426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12613224	chr2:77453446-77453447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139823143	chr2:77453497-77453498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55783580	chr2:77453503-77453504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538326375	chr2:77453523-77453524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550244914	chr2:77453532-77453533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12623152	chr2:77453553-77453554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113333507	chr2:77453560-77453561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533044812	chr2:77453579-77453580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538992573	chr2:77453594-77453595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554109517	chr2:77453618-77453619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190550932	chr2:77453633-77453634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376447169	chr2:77453665-77453666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60188707	chr2:77453680-77453681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs70939849	chr2:77453686-77453687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183171826	chr2:77453716-77453717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187424506	chr2:77453761-77453762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554730479	chr2:77453784-77453785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576088022	chr2:77453821-77453822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145673621	chr2:77453827-77453828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190999974	chr2:77453839-77453840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576441256	chr2:77453856-77453857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563332458	chr2:77453859-77453860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115207815	chr2:77453863-77453864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560643851	chr2:77453882-77453883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545379341	chr2:77453907-77453908	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527953206	chr2:77453945-77453946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549345594	chr2:77453946-77453947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147317450	chr2:77453999-77454000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs13001521	chr2:77454019-77454020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567713531	chr2:77454035-77454036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531881855	chr2:77454052-77454053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550305720	chr2:77454053-77454054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562499836	chr2:77454055-77454056	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77447000-77453800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:77453800-77454000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:77454000-77454200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:77454000-77454200	Enhancers	Adipose Nuclei	Adipose
5	chr2:77454200-77454400	Enhancers	Fetal Lung	lung
6	chr2:77454400-77455400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:77454400-77455400	Weak transcription	Fetal Lung	lung
8	chr2:77454400-77455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:77455400-77455800	Enhancers	Fetal Stomach	stomach
10	chr2:77455400-77456000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:77455400-77456000	Enhancers	NHLF	lung
12	chr2:77455400-77456200	Enhancers	Adipose Nuclei	Adipose
13	chr2:77455400-77456200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:77455400-77456200	Enhancers	Fetal Brain Male	brain
15	chr2:77455400-77456200	Enhancers	Fetal Lung	lung
16	chr2:77455600-77456200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:77455600-77456200	Enhancers	Brain Germinal Matrix	brain
18	chr2:77455800-77456200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:77455800-77456200	Enhancers	Fetal Brain Female	brain
20	chr2:77456000-77458200	Weak transcription	NHLF	lung
21	chr2:77456200-77458200	Weak transcription	Fetal Brain Male	brain
22	chr2:77458200-77458400	Enhancers	NHLF	lung
23	chr2:77458200-77458600	Enhancers	Fetal Brain Male	brain
24	chr2:77458400-77459000	Weak transcription	NHLF	lung
25	chr2:77458800-77459600	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:77459000-77459800	Enhancers	NHLF	lung
27	chr2:77465600-77466000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:77471800-77472000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:77473000-77473400	Enhancers	Adipose Nuclei	Adipose
30	chr2:77493200-77493800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:77493600-77494200	Enhancers	Dnd41	blood
32	chr2:77497000-77497400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:77497000-77497400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:77504000-77505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:77504600-77505400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:77504800-77505400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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