Variant report

Variant	nsv521095
Chromosome Location	chr4:125439666-125444404
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	chr4:125439594..125442086-chr4:125447546..125449472,2	MCF-7	breast:
2	chr4:125442062..125443590-chr4:125447572..125450020,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-1	chr4:125441716-125441911	XLOC_004064
2	lnc-ANKRD50-1	chr4:125443262-125443359	XLOC_004064

Extended variants
information (count: 87 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188740	chr4:125439666-125439667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547465886	chr4:125439675-125439676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138706746	chr4:125439689-125439690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142766451	chr4:125439695-125439696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555168462	chr4:125439743-125439744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551422170	chr4:125439770-125439771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569832328	chr4:125439800-125439801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184997650	chr4:125439865-125439866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147348447	chr4:125439866-125439867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574239563	chr4:125439931-125439932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544755765	chr4:125439996-125439997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114572562	chr4:125440004-125440005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553391831	chr4:125440008-125440009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560330868	chr4:125440010-125440011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374430776	chr4:125440111-125440112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17831051	chr4:125440118-125440119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189024820	chr4:125440130-125440131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56149912	chr4:125440131-125440132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576231364	chr4:125440178-125440179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137948256	chr4:125440194-125440195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561904352	chr4:125440233-125440234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529172418	chr4:125440295-125440296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562113717	chr4:125440296-125440297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373513257	chr4:125440325-125440326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547623882	chr4:125440343-125440344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76911106	chr4:125440415-125440416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533325619	chr4:125440459-125440460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551385200	chr4:125440474-125440475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181421059	chr4:125440497-125440498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573094083	chr4:125440528-125440529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17008280	chr4:125440570-125440571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185610750	chr4:125440594-125440595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76925552	chr4:125440623-125440624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567797751	chr4:125440628-125440629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543153252	chr4:125440717-125440718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60266872	chr4:125440721-125440722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149639953	chr4:125440750-125440751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58293561	chr4:125440801-125440802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531735129	chr4:125440813-125440814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375656052	chr4:125440862-125440863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs312503	chr4:125440879-125440880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539416854	chr4:125440891-125440892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557820319	chr4:125440900-125440901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188425343	chr4:125440901-125440902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543589084	chr4:125440944-125440945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180747179	chr4:125440990-125440991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573740149	chr4:125441013-125441014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564388324	chr4:125441070-125441071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540884827	chr4:125441072-125441073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs312502	chr4:125441082-125441083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125439000-125440800	Enhancers	Liver	Liver
2	chr4:125440800-125441600	Weak transcription	Liver	Liver
3	chr4:125444400-125445400	Enhancers	Fetal Stomach	stomach

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