Variant report

Variant	esv3422511
Chromosome Location	chr2:77313346-77335432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1156 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73940296	chr2:77313349-77313350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148880058	chr2:77313411-77313412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187208120	chr2:77313423-77313424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532987394	chr2:77313443-77313444	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369668352	chr2:77313469-77313470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373401081	chr2:77313493-77313494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560342671	chr2:77313512-77313513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558819554	chr2:77313519-77313520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111490311	chr2:77313535-77313536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560996552	chr2:77313544-77313545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145182778	chr2:77313588-77313589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577260805	chr2:77313593-77313594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs11388552	chr2:77313620-77313621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372816000	chr2:77313626-77313627	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541111586	chr2:77313673-77313674	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559651145	chr2:77313678-77313679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574790741	chr2:77313714-77313715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551811706	chr2:77313755-77313756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542109399	chr2:77313764-77313765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181377073	chr2:77313766-77313767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370318515	chr2:77313776-77313777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552332122	chr2:77313780-77313781	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs202239631	chr2:77313781-77313782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113268910	chr2:77313785-77313786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376607902	chr2:77313791-77313792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142781309	chr2:77313810-77313811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28558448	chr2:77313817-77313818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546289268	chr2:77313819-77313820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567684619	chr2:77313841-77313842	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184246195	chr2:77313864-77313865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548501686	chr2:77313880-77313881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570000603	chr2:77313901-77313902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537290566	chr2:77313941-77313942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559106481	chr2:77313952-77313953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188969638	chr2:77313955-77313956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555370568	chr2:77313957-77313958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181938742	chr2:77313981-77313982	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149043037	chr2:77313982-77313983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28739330	chr2:77313997-77313998	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377690696	chr2:77314023-77314024	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs56038358	chr2:77314047-77314048	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76424083	chr2:77314049-77314050	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555952342	chr2:77314062-77314063	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558568647	chr2:77314102-77314103	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187018702	chr2:77314120-77314121	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563607840	chr2:77314136-77314137	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575600178	chr2:77314157-77314158	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192473978	chr2:77314161-77314162	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145076924	chr2:77314166-77314167	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs180846828	chr2:77314179-77314180	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77311400-77314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77311600-77313600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:77311600-77315000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:77312600-77313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:77312600-77314000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:77312600-77314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:77312800-77314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:77312800-77314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:77313000-77314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:77313000-77315000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:77313200-77314800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:77313200-77315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:77313200-77315400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:77313600-77315400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:77313800-77314800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:77313800-77315800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:77314000-77314200	Enhancers	Fetal Lung	lung
18	chr2:77314000-77314400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:77314000-77314400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr2:77314000-77314800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:77314000-77314800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:77314000-77315200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:77314200-77314400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:77314200-77314800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:77314200-77315000	Weak transcription	Fetal Lung	lung
26	chr2:77314200-77315200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:77314200-77315400	Enhancers	Liver	Liver
28	chr2:77314400-77314800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:77314400-77321200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:77314800-77315000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:77314800-77315000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:77314800-77315000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:77314800-77315000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:77314800-77315000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:77314800-77317000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:77315000-77315200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:77315000-77315200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:77315000-77315200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:77315000-77315200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:77315000-77315200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:77315000-77315400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:77315000-77315400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:77315000-77315400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:77315000-77315400	Enhancers	Fetal Lung	lung
45	chr2:77315000-77317600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:77315200-77316200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:77315200-77317400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:77315200-77318200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:77315200-77318200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:77315200-77319000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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