Variant report

Variant	esv1850818
Chromosome Location	chr1:158192339-158200312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD1A-1	chr1:158197638-158197819	NONHSAT006977
2	lnc-CD1A-1	chr1:158197632-158197819	NONHSAT006976
3	lnc-CD1A-1	chr1:158197698-158197819	ucscGeneNc_uc001fuu_2

Extended variants
information (count: 224 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541678395	chr1:158194220-158194221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559480874	chr1:158194227-158194228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533012795	chr1:158194292-158194293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564070928	chr1:158194337-158194338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs421719	chr1:158194340-158194341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569515787	chr1:158194346-158194347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147780389	chr1:158194405-158194406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548988008	chr1:158194417-158194418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141143739	chr1:158194422-158194423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534502315	chr1:158194461-158194462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552797698	chr1:158194479-158194480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376494843	chr1:158194489-158194490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551571639	chr1:158194493-158194494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76679311	chr1:158194524-158194525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571111313	chr1:158194567-158194568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs434570	chr1:158194598-158194599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190593757	chr1:158194606-158194607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566198407	chr1:158194661-158194662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs416989	chr1:158194665-158194666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537480230	chr1:158194666-158194667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112948613	chr1:158194684-158194685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548682513	chr1:158194721-158194722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs413557	chr1:158194732-158194733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201712599	chr1:158194756-158194757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs392333	chr1:158194779-158194780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs434232	chr1:158194790-158194791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145000800	chr1:158194860-158194861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545097842	chr1:158194880-158194881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs429201	chr1:158194899-158194900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551894802	chr1:158194949-158194950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549005973	chr1:158194960-158194961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561025129	chr1:158194965-158194966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112175841	chr1:158194977-158194978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546498369	chr1:158195015-158195016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571072151	chr1:158195016-158195017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75302124	chr1:158195053-158195054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537555534	chr1:158195055-158195056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183016893	chr1:158195069-158195070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs420074	chr1:158195082-158195083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555777851	chr1:158195114-158195115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371689068	chr1:158195147-158195148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs380382	chr1:158195150-158195151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535303093	chr1:158195157-158195158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553725521	chr1:158195176-158195177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147589762	chr1:158195178-158195179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73017992	chr1:158195184-158195185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553278390	chr1:158195195-158195196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs380314	chr1:158195214-158195215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575345727	chr1:158195216-158195217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545158863	chr1:158195242-158195243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158194200-158198400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:158198400-158198600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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