Variant report

Variant	esv3320755
Chromosome Location	chr1:159066011-159068366
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	chr1:159062221..159063748-chr1:159065497..159068342,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI16-1	chr1:159066801-159067405	predAs_ge08_CD244_1

Extended variants
information (count: 78 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375428803	chr1:159066107-159066108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372426251	chr1:159066128-159066129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576538037	chr1:159066135-159066136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543597672	chr1:159066158-159066159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565841979	chr1:159066241-159066242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182001800	chr1:159066365-159066366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530876834	chr1:159066416-159066417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143039887	chr1:159066434-159066435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541060916	chr1:159066486-159066487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553917278	chr1:159066505-159066506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183605071	chr1:159066542-159066543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374098190	chr1:159066564-159066565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147109340	chr1:159066630-159066631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138564326	chr1:159066674-159066675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563348608	chr1:159066710-159066711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149605845	chr1:159066711-159066712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187957836	chr1:159066712-159066713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567595677	chr1:159066720-159066721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144343067	chr1:159066740-159066741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546297045	chr1:159066759-159066760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571197297	chr1:159066789-159066790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180932197	chr1:159066808-159066809	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs76824366	chr1:159066822-159066823	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs575242579	chr1:159066926-159066927	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537274071	chr1:159066970-159066971	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs577588845	chr1:159066983-159066984	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555523031	chr1:159067035-159067036	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs148626090	chr1:159067060-159067061	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs116219911	chr1:159067080-159067081	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs559490813	chr1:159067081-159067082	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs577928186	chr1:159067112-159067113	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545065703	chr1:159067132-159067133	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs200347649	chr1:159067148-159067149	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563853030	chr1:159067173-159067174	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531005670	chr1:159067208-159067209	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542878360	chr1:159067259-159067260	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs375950489	chr1:159067463-159067464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543388970	chr1:159067471-159067472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528419760	chr1:159067475-159067476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370881943	chr1:159067478-159067479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546828436	chr1:159067487-159067488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141198176	chr1:159067492-159067493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35238382	chr1:159067519-159067520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532177260	chr1:159067535-159067536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550283917	chr1:159067553-159067554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568643044	chr1:159067613-159067614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535908994	chr1:159067635-159067636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75041654	chr1:159067683-159067684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567473662	chr1:159067689-159067690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186412016	chr1:159067694-159067695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159063400-159067000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:159063400-159067000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:159064400-159066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:159064800-159066800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:159065200-159066600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:159065200-159066600	Enhancers	NHEK	skin
7	chr1:159065400-159066400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:159065400-159066800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:159065600-159066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:159065600-159066600	Enhancers	HMEC	breast
11	chr1:159065800-159066200	Enhancers	HUVEC	blood vessel
12	chr1:159066400-159066600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:159066400-159067400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:159066800-159068800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:159066800-159071800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:159067000-159067400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:159067000-159067400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:159067400-159071800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:159067400-159072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:159067400-159073400	Weak transcription	Monocytes-CD14+_RO01746	blood

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