Variant report

Variant	esv2762205
Chromosome Location	chr1:190994739-191005866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-8	chr1:191001792-191001930	l_159_chr1:191000527-191001930_76bGuttman_hLF
2	lnc-FAM5C-8	chr1:191000528-191000708	l_159_chr1:191000527-191001930_76bGuttman_hLF

Extended variants
information (count: 66 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9970203	chr1:190994739-190994740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182414970	chr1:190994744-190994745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534478607	chr1:190994746-190994747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187797511	chr1:190994749-190994750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577819397	chr1:190994801-190994802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557080891	chr1:190994832-190994833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192756421	chr1:190994970-190994971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184861065	chr1:190994971-190994972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542370992	chr1:190994990-190994991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10801006	chr1:190995030-190995031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142516933	chr1:190995071-190995072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541600317	chr1:190995080-190995081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189243599	chr1:190995081-190995082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192002391	chr1:190995095-190995096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544355764	chr1:190995107-190995108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569583038	chr1:190995108-190995109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10801007	chr1:190995109-190995110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573166465	chr1:190995116-190995117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565399078	chr1:190995133-190995134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540985100	chr1:190995158-190995159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553261080	chr1:190995176-190995177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557482205	chr1:190995190-190995191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571415097	chr1:190995199-190995200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536985677	chr1:190995209-190995210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557200961	chr1:190995222-190995223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs10753969	chr1:190995262-190995263	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10801008	chr1:190995271-190995272	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555906378	chr1:190995272-190995273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572528851	chr1:190995280-190995281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541536891	chr1:190995283-190995284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184933761	chr1:190995295-190995296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563412092	chr1:190995301-190995302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542818964	chr1:190995306-190995307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189361987	chr1:190995317-190995318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563977379	chr1:190995321-190995322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113454018	chr1:190995363-190995364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528870718	chr1:190995366-190995367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs180973585	chr1:190995387-190995388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112470145	chr1:190995409-190995410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530505682	chr1:190995411-190995412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551446013	chr1:190995432-190995433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs116500201	chr1:190995467-190995468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537222571	chr1:190995473-190995474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115420678	chr1:190995475-190995476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189370952	chr1:190995484-190995485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369819795	chr1:190995514-190995515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555846894	chr1:190995521-190995522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181456443	chr1:190995542-190995543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144846180	chr1:190995586-190995587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558208583	chr1:190995592-190995593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190992200-190995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:190995200-190995600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:190995200-190995600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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