Variant report

Variant	esv3446620
Chromosome Location	chr2:77730694-77734492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:77726699..77728852-chr2:77733118..77735865,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG1B-8	chr2:77733047-77733243	NONHSAT071827

Extended variants
information (count: 139 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35286009	chr2:77730722-77730723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188198446	chr2:77730725-77730726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192785027	chr2:77730728-77730729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13418152	chr2:77730773-77730774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141755848	chr2:77730778-77730779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560912984	chr2:77730790-77730791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34827946	chr2:77730823-77730824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147189317	chr2:77730824-77730825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569862889	chr2:77730825-77730826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538850917	chr2:77730865-77730866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10198058	chr2:77730954-77730955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74338442	chr2:77730988-77730989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535299769	chr2:77730994-77730995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6761838	chr2:77730997-77730998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573637726	chr2:77731032-77731033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373587170	chr2:77731057-77731058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556287912	chr2:77731123-77731124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368386961	chr2:77731128-77731129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567118234	chr2:77731136-77731137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544859559	chr2:77731154-77731155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565116168	chr2:77731174-77731175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572168585	chr2:77731251-77731252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367764392	chr2:77731282-77731283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34996456	chr2:77731311-77731312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530034581	chr2:77731323-77731324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534493695	chr2:77731334-77731335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549804741	chr2:77731378-77731379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375013128	chr2:77731428-77731429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76911081	chr2:77731437-77731438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532669261	chr2:77731474-77731475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72813108	chr2:77731476-77731477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372587311	chr2:77731544-77731545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571369839	chr2:77731675-77731676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371798534	chr2:77731687-77731688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566232055	chr2:77731689-77731690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528684386	chr2:77731751-77731752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548850282	chr2:77731757-77731758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568815543	chr2:77731785-77731786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536242367	chr2:77731829-77731830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556228883	chr2:77731844-77731845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569627842	chr2:77731853-77731854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183654530	chr2:77731870-77731871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558379346	chr2:77731894-77731895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187208112	chr2:77731896-77731897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145982379	chr2:77731913-77731914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138992820	chr2:77731914-77731915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66484712	chr2:77731915-77731916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59725571	chr2:77731918-77731919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112442307	chr2:77731919-77731920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113983293	chr2:77731923-77731924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77729800-77730800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77730400-77739200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:77730400-77739400	Weak transcription	Fetal Brain Male	brain
4	chr2:77730400-77740200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:77730800-77737000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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