Variant report

Variant	nsv525420
Chromosome Location	chr1:86704191-86707365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6576823	chr1:86704191-86704192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7513879	chr1:86704221-86704222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148504711	chr1:86704270-86704271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374313450	chr1:86704279-86704280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188403475	chr1:86704424-86704425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180955461	chr1:86704449-86704450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185182636	chr1:86704498-86704499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202241499	chr1:86704503-86704504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573374228	chr1:86704538-86704539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7553562	chr1:86704540-86704541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373897680	chr1:86704541-86704542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558874211	chr1:86704580-86704581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575568094	chr1:86704607-86704608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576048524	chr1:86704618-86704619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191988077	chr1:86704620-86704621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561007031	chr1:86704652-86704653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529975677	chr1:86704656-86704657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563898265	chr1:86704672-86704673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559918991	chr1:86704717-86704718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532036999	chr1:86704732-86704733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143514426	chr1:86704738-86704739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146756024	chr1:86704782-86704783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529427532	chr1:86704783-86704784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577465752	chr1:86704808-86704809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76325874	chr1:86704812-86704813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7516602	chr1:86704813-86704814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140345149	chr1:86704817-86704818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553559349	chr1:86704836-86704837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374237652	chr1:86704882-86704883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567083268	chr1:86704953-86704954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540100005	chr1:86704962-86704963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539091751	chr1:86704969-86704970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs36018343	chr1:86704988-86704989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35834865	chr1:86704994-86704995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78761385	chr1:86705003-86705004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529011403	chr1:86705036-86705037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377124665	chr1:86705108-86705109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549040592	chr1:86705172-86705173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115288068	chr1:86705227-86705228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562542833	chr1:86705282-86705283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375653849	chr1:86705323-86705324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11161781	chr1:86705340-86705341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540145798	chr1:86705352-86705353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114949312	chr1:86705429-86705430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576648835	chr1:86705455-86705456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182199130	chr1:86705504-86705505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34007588	chr1:86705507-86705508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116759071	chr1:86705526-86705527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376726144	chr1:86705529-86705530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372423821	chr1:86705543-86705544	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
Papillary thyroid carcinoma	21436994	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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86703000-86704600	Enhancers	Fetal Heart	heart
2	chr1:86703400-86704200	Enhancers	Fetal Stomach	stomach
3	chr1:86703600-86704200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:86703800-86704200	Enhancers	Stomach Smooth Muscle	stomach
5	chr1:86704600-86705000	Weak transcription	Fetal Heart	heart
6	chr1:86704800-86705600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:86705000-86705800	Enhancers	Fetal Heart	heart
8	chr1:86705000-86705800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:86705400-86705800	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:86705400-86706000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:86705400-86706400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:86705600-86706400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:86705600-86706600	Enhancers	Psoas Muscle	Psoas
14	chr1:86706600-86707000	Weak transcription	Psoas Muscle	Psoas
15	chr1:86707000-86707200	Enhancers	Psoas Muscle	Psoas
16	chr1:86707200-86713400	Weak transcription	Psoas Muscle	Psoas

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