Variant report

Variant	esv1808795
Chromosome Location	chr4:143857988-143861293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4B-2	chr4:143861242-143861398	ENSG00000250326.1

Extended variants
information (count: 70 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375641041	chr4:143859438-143859439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576924762	chr4:143859448-143859449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577422924	chr4:143859471-143859472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534809855	chr4:143859508-143859509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554563043	chr4:143859510-143859511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7657815	chr4:143859581-143859582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140001446	chr4:143859594-143859595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544418426	chr4:143859607-143859608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1012011	chr4:143859652-143859653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562910824	chr4:143859673-143859674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575017685	chr4:143859752-143859753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545539087	chr4:143859799-143859800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530069360	chr4:143859802-143859803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532641376	chr4:143859810-143859811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1012012	chr4:143859843-143859844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562366989	chr4:143859891-143859892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368636182	chr4:143859894-143859895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149844099	chr4:143859911-143859912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114323514	chr4:143859956-143859957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181449146	chr4:143859967-143859968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185989870	chr4:143859984-143859985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7674856	chr4:143860023-143860024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537563956	chr4:143860024-143860025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114900652	chr4:143860037-143860038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112313304	chr4:143860057-143860058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570923670	chr4:143860058-143860059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191324252	chr4:143860063-143860064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552734947	chr4:143860080-143860081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144828245	chr4:143860111-143860112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371970957	chr4:143860130-143860131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183208670	chr4:143860141-143860142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556542473	chr4:143860153-143860154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186039838	chr4:143860164-143860165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13435685	chr4:143860186-143860187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190617683	chr4:143860203-143860204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572877763	chr4:143860247-143860248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182304840	chr4:143860302-143860303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559954999	chr4:143860348-143860349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369232121	chr4:143860370-143860371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369614784	chr4:143860412-143860413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528415331	chr4:143860413-143860414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542503469	chr4:143860416-143860417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563965900	chr4:143860434-143860435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139909186	chr4:143860441-143860442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372222737	chr4:143860462-143860463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570892536	chr4:143860489-143860490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376882364	chr4:143860503-143860504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546463010	chr4:143860528-143860529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11736301	chr4:143860541-143860542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567868138	chr4:143860553-143860554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143859400-143859800	Enhancers	Fetal Heart	heart
2	chr4:143859800-143861800	Weak transcription	Fetal Heart	heart
3	chr4:143860400-143860800	Enhancers	Brain Germinal Matrix	brain
4	chr4:143860800-143861200	Weak transcription	Brain Germinal Matrix	brain
5	chr4:143861200-143862200	Enhancers	Brain Germinal Matrix	brain

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