Variant report

Variant	nsv593461
Chromosome Location	chr4:3599754-3600504
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	chr4:3597553..3600117-chr4:3602844..3606284,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRPAP1-5	chr4:3600324-3600789	NONHSAT094890

Extended variants
information (count: 60 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112850639	chr4:3599754-3599755	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs62273030	chr4:3599763-3599764	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73201200	chr4:3599765-3599766	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs73201202	chr4:3599784-3599785	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs73203104	chr4:3599788-3599789	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564931224	chr4:3599810-3599811	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62273031	chr4:3599866-3599867	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550698428	chr4:3599867-3599868	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28719511	chr4:3599883-3599884	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28457729	chr4:3599887-3599888	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111739046	chr4:3599898-3599899	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143801042	chr4:3599904-3599905	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368064801	chr4:3599918-3599919	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9759422	chr4:3599930-3599931	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112393032	chr4:3599964-3599965	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558963206	chr4:3599970-3599971	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28631306	chr4:3599975-3599976	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537840610	chr4:3600004-3600005	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62273032	chr4:3600028-3600029	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62273033	chr4:3600035-3600036	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574941038	chr4:3600036-3600037	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16844948	chr4:3600042-3600043	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553173063	chr4:3600051-3600052	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573059920	chr4:3600092-3600093	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4037446	chr4:3600119-3600120	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9762355	chr4:3600168-3600169	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201138881	chr4:3600185-3600186	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12374251	chr4:3600216-3600217	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530569332	chr4:3600223-3600224	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12374236	chr4:3600229-3600230	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10602511	chr4:3600236-3600237	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398063208	chr4:3600240-3600241	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66494629	chr4:3600248-3600249	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62273034	chr4:3600254-3600255	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62273035	chr4:3600261-3600262	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543814163	chr4:3600287-3600288	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560671008	chr4:3600293-3600294	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12374254	chr4:3600300-3600301	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529706280	chr4:3600311-3600312	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546273646	chr4:3600315-3600316	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35597866	chr4:3600335-3600336	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs566749430	chr4:3600337-3600338	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369898760	chr4:3600349-3600350	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs28576172	chr4:3600353-3600354	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs71202510	chr4:3600370-3600371	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs62273036	chr4:3600386-3600387	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs142313548	chr4:3600388-3600389	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569407747	chr4:3600392-3600393	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538243900	chr4:3600453-3600454	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201586686	chr4:3600454-3600455	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3595600-3600200	Weak transcription	Fetal Heart	heart
2	chr4:3595800-3603400	Weak transcription	Right Atrium	heart
3	chr4:3597000-3604200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3597000-3608000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:3597400-3601200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr4:3598600-3607600	ZNF genes & repeats	Fetal Stomach	stomach
7	chr4:3598800-3601000	ZNF genes & repeats	Spleen	Spleen
8	chr4:3599400-3599800	Weak transcription	Fetal Brain Male	brain
9	chr4:3599400-3599800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:3599400-3601000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:3599600-3599800	Enhancers	HepG2	liver
12	chr4:3599600-3600400	Enhancers	Brain Anterior Caudate	brain
13	chr4:3599600-3601000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:3599800-3600600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:3599800-3600600	Enhancers	Fetal Brain Female	brain
16	chr4:3599800-3601800	ZNF genes & repeats	Fetal Brain Male	brain
17	chr4:3600000-3600400	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:3600000-3600400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:3600000-3600800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr4:3600000-3601600	ZNF genes & repeats	Fetal Lung	lung
21	chr4:3600000-3604200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:3600200-3600600	ZNF genes & repeats	Fetal Heart	heart
23	chr4:3600200-3600800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:3600200-3601000	ZNF genes & repeats	Gastric	stomach
25	chr4:3600200-3601400	ZNF genes & repeats	Esophagus	oesophagus
26	chr4:3600200-3601600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:3600200-3601600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:3600200-3602200	ZNF genes & repeats	Pancreas	Pancrea
29	chr4:3600400-3601000	ZNF genes & repeats	Fetal Kidney	kidney
30	chr4:3600400-3601600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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