Variant report

Variant	nsv582269
Chromosome Location	chr2:78359187-78489746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-8	chr2:78371022-78371323	ucscGeneNc_uc002snu_2

Extended variants
information (count: 2241 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17015011	chr2:78359187-78359188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571157467	chr2:78359190-78359191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181207166	chr2:78359198-78359199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187051180	chr2:78359209-78359210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547907021	chr2:78359212-78359213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567521857	chr2:78359247-78359248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547106986	chr2:78359250-78359251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536650723	chr2:78359289-78359290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76043754	chr2:78359410-78359411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576798169	chr2:78359415-78359416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539385750	chr2:78359419-78359420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559171577	chr2:78359441-78359442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572711902	chr2:78359464-78359465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78416645	chr2:78359482-78359483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560216205	chr2:78359491-78359492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538344732	chr2:78359509-78359510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573511483	chr2:78359545-78359546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542617733	chr2:78359555-78359556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191393550	chr2:78359559-78359560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78218225	chr2:78359644-78359645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75932745	chr2:78359646-78359647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531499987	chr2:78359650-78359651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182424273	chr2:78359655-78359656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs151004943	chr2:78359692-78359693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs72923673	chr2:78359717-78359718	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547523800	chr2:78359728-78359729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187381161	chr2:78359734-78359735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192268694	chr2:78359764-78359765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550516114	chr2:78359798-78359799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536385268	chr2:78359813-78359814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550195540	chr2:78359833-78359834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570092481	chr2:78359843-78359844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547715821	chr2:78359857-78359858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111600644	chr2:78359871-78359872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147812920	chr2:78359887-78359888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369339581	chr2:78359894-78359895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182284589	chr2:78359913-78359914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553547490	chr2:78359946-78359947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573672057	chr2:78359975-78359976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186591880	chr2:78359988-78359989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562124827	chr2:78360077-78360078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536516548	chr2:78360085-78360086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575668746	chr2:78360106-78360107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12990092	chr2:78360113-78360114	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564836613	chr2:78360135-78360136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142434613	chr2:78360162-78360163	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs541209224	chr2:78360201-78360202	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113967056	chr2:78360258-78360259	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150211212	chr2:78360284-78360285	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530187823	chr2:78360313-78360314	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78355000-78359600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:78359600-78360200	Active TSS	Brain Hippocampus Middle	brain
3	chr2:78359600-78360200	Active TSS	Brain Substantia Nigra	brain
4	chr2:78360000-78360400	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:78360000-78360400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:78360200-78360400	Flanking Active TSS	Brain Substantia Nigra	brain
7	chr2:78371800-78372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:78372600-78374000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:78372800-78374800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:78374400-78374600	Active TSS	Spleen	Spleen
11	chr2:78374400-78374800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:78374400-78375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:78374600-78374800	Flanking Active TSS	Spleen	Spleen
14	chr2:78385400-78385800	Enhancers	Brain Substantia Nigra	brain
15	chr2:78385600-78386400	Enhancers	Brain Hippocampus Middle	brain
16	chr2:78389000-78389400	Active TSS	Hela-S3	cervix
17	chr2:78389000-78390200	Enhancers	HepG2	liver
18	chr2:78402600-78403400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:78402800-78403200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:78402800-78403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:78403200-78408200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:78405000-78405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:78408000-78408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:78408000-78408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:78408200-78408600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:78408200-78408600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:78408200-78408600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:78408200-78408600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:78413600-78414600	Enhancers	HepG2	liver
30	chr2:78414600-78418600	Weak transcription	HepG2	liver
31	chr2:78418600-78418800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:78418600-78419000	Enhancers	HepG2	liver
33	chr2:78418800-78428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:78419000-78432400	Weak transcription	HepG2	liver
35	chr2:78428000-78431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:78428200-78428600	Active TSS	Brain Anterior Caudate	brain
37	chr2:78428400-78428800	Active TSS	Brain Angular Gyrus	brain
38	chr2:78428400-78428800	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:78428400-78428800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:78428400-78428800	Active TSS	Brain Substantia Nigra	brain
41	chr2:78428400-78430000	Active TSS	Brain Hippocampus Middle	brain
42	chr2:78428800-78429600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:78428800-78429600	Weak transcription	Brain Substantia Nigra	brain
44	chr2:78428800-78430400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:78429600-78430000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:78429600-78430000	Active TSS	Brain Substantia Nigra	brain
47	chr2:78430000-78430400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr2:78430000-78430600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:78430200-78430800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:78430400-78430800	Enhancers	Brain Cingulate Gyrus	brain

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