Variant report

Variant	esv3326463
Chromosome Location	chr1:56404789-56407792
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	chr1:56403818..56405745-chr1:56407271..56408987,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPAP2B-8	chr1:56404788-56404953	NONHSAT003428

Variant related genes	Relation type
ENSG00000227104	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4244652	chr1:56404797-56404798	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540542905	chr1:56404834-56404835	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs146355039	chr1:56404888-56404889	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532357224	chr1:56404889-56404890	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531666921	chr1:56404895-56404896	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs76672340	chr1:56404909-56404910	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs6699468	chr1:56404919-56404920	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4244653	chr1:56404927-56404928	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369806817	chr1:56404991-56404992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6699573	chr1:56404996-56404997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139076122	chr1:56405023-56405024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6699599	chr1:56405040-56405041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570768321	chr1:56405094-56405095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539683547	chr1:56405129-56405130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184009751	chr1:56405160-56405161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552645180	chr1:56405167-56405168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531534997	chr1:56405172-56405173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569842106	chr1:56405175-56405176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77401858	chr1:56405176-56405177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555551757	chr1:56405225-56405226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7517205	chr1:56405234-56405235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554078049	chr1:56405257-56405258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577209568	chr1:56405315-56405316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546050640	chr1:56405358-56405359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562660849	chr1:56405363-56405364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531496759	chr1:56405393-56405394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143090033	chr1:56405396-56405397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548305744	chr1:56405399-56405400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4341397	chr1:56405400-56405401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527289921	chr1:56405412-56405413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6702426	chr1:56405460-56405461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187835993	chr1:56405471-56405472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192319716	chr1:56405474-56405475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183033440	chr1:56405527-56405528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147069451	chr1:56405535-56405536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4342888	chr1:56405548-56405549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10630806	chr1:56405549-56405550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34092782	chr1:56405550-56405551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535629048	chr1:56405564-56405565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199908579	chr1:56405566-56405567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4526652	chr1:56405703-56405704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs374511721	chr1:56405732-56405733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148026657	chr1:56405740-56405741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7552503	chr1:56405745-56405746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558676780	chr1:56405765-56405766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7552520	chr1:56405778-56405779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368291339	chr1:56405791-56405792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76470507	chr1:56405798-56405799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111247486	chr1:56405809-56405810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546137378	chr1:56405817-56405818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56402000-56416800	Weak transcription	Aorta	Aorta
2	chr1:56403200-56406200	Enhancers	Fetal Muscle Leg	muscle
3	chr1:56403400-56404800	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:56403400-56405000	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:56403400-56405000	Enhancers	Ovary	ovary
6	chr1:56403600-56404800	Enhancers	Left Ventricle	heart
7	chr1:56403600-56404800	Enhancers	Right Ventricle	heart
8	chr1:56403800-56404800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:56403800-56404800	Enhancers	Fetal Stomach	stomach
10	chr1:56403800-56404800	Enhancers	Right Atrium	heart
11	chr1:56404000-56405200	Enhancers	Fetal Heart	heart
12	chr1:56404600-56408600	Weak transcription	Fetal Lung	lung
13	chr1:56404600-56416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:56404800-56409000	Weak transcription	Colon Smooth Muscle	Colon

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