Variant report

Variant	nsv1007988
Chromosome Location	chr2:34098692-34124115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34111439-34111541	ENSG00000203386

Extended variants
information (count: 658 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1718713	chr2:34098692-34098693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147320164	chr2:34098717-34098718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140344760	chr2:34098737-34098738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142692493	chr2:34098753-34098754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571480614	chr2:34098764-34098765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565571804	chr2:34098791-34098792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543398533	chr2:34100203-34100204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551865340	chr2:34100205-34100206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144991914	chr2:34100248-34100249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534198578	chr2:34100267-34100268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201172091	chr2:34100273-34100274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185862180	chr2:34100277-34100278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371237936	chr2:34100317-34100318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547436205	chr2:34100329-34100330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561657609	chr2:34100336-34100337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145695568	chr2:34100363-34100364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77004049	chr2:34100395-34100396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576599476	chr2:34100396-34100397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112379223	chr2:34100400-34100401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543760707	chr2:34100664-34100665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563399425	chr2:34100684-34100685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532341934	chr2:34100743-34100744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564687813	chr2:34100790-34100791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76245805	chr2:34100794-34100795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561076418	chr2:34100816-34100817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182487415	chr2:34100822-34100823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115555134	chr2:34100825-34100826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187524561	chr2:34100895-34100896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190304407	chr2:34100896-34100897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567353566	chr2:34100901-34100902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148147794	chr2:34100903-34100904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544076986	chr2:34100941-34100942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111498427	chr2:34100980-34100981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77221235	chr2:34100992-34100993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539227122	chr2:34101012-34101013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72864695	chr2:34101015-34101016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146915190	chr2:34101024-34101025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192420298	chr2:34101044-34101045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554676263	chr2:34101073-34101074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182968684	chr2:34101079-34101080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114732431	chr2:34101094-34101095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75168482	chr2:34101105-34101106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544013643	chr2:34101114-34101115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74902906	chr2:34101160-34101161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546071486	chr2:34101179-34101180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548419467	chr2:34101188-34101189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559321473	chr2:34101193-34101194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565429246	chr2:34101202-34101203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528251965	chr2:34101262-34101263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532866742	chr2:34101265-34101266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34097800-34098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:34100200-34100400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:34100600-34102800	Weak transcription	Right Atrium	heart
4	chr2:34101800-34102600	Enhancers	Fetal Heart	heart
5	chr2:34102600-34103400	Flanking Active TSS	Fetal Heart	heart
6	chr2:34102600-34105000	Enhancers	Ovary	ovary
7	chr2:34102800-34104200	Enhancers	Right Atrium	heart
8	chr2:34103200-34103600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:34103400-34104200	Enhancers	Fetal Heart	heart
10	chr2:34109200-34109800	ZNF genes & repeats	Aorta	Aorta
11	chr2:34109400-34109800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:34112600-34114000	Enhancers	Fetal Heart	heart
13	chr2:34114000-34114400	Weak transcription	Fetal Heart	heart
14	chr2:34114400-34119800	Enhancers	Fetal Heart	heart
15	chr2:34116000-34116400	Enhancers	Aorta	Aorta
16	chr2:34116000-34117000	Enhancers	Right Atrium	heart
17	chr2:34116200-34117400	Enhancers	Ovary	ovary
18	chr2:34116200-34119200	Enhancers	Fetal Brain Male	brain
19	chr2:34116600-34117000	Enhancers	Fetal Brain Female	brain
20	chr2:34116600-34117400	Enhancers	Fetal Lung	lung
21	chr2:34117400-34118400	Weak transcription	Fetal Lung	lung
22	chr2:34117400-34118400	Weak transcription	Ovary	ovary
23	chr2:34118400-34119800	Enhancers	Ovary	ovary
24	chr2:34118800-34119000	Enhancers	Fetal Lung	lung
25	chr2:34119400-34119800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:34122800-34123600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:34123000-34123800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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