Variant report

Variant	nsv437421
Chromosome Location	chr4:121090040-121113162
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	chr4:120985495..120988183-chr4:121111194..121113222,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-12	chr4:121102663-121102842	NONHSAT098121
2	lnc-AC110373.1-12	chr4:121103326-121103369	NONHSAT098121

Variant related genes	Relation type
ENSG00000250938	chromatin interactions
ENSG00000164109	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149923311	chr4:121090807-121090808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532660220	chr4:121090815-121090816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539416351	chr4:121090862-121090863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552415189	chr4:121090896-121090897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181019115	chr4:121090911-121090912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75213690	chr4:121090937-121090938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185046996	chr4:121090957-121090958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552698659	chr4:121090968-121090969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572857547	chr4:121090995-121090996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72918143	chr4:121091011-121091012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568517315	chr4:121091020-121091021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74875230	chr4:121091079-121091080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557311116	chr4:121091107-121091108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537346451	chr4:121091230-121091231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372107001	chr4:121091269-121091270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539844472	chr4:121091286-121091287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72918144	chr4:121091329-121091330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572385258	chr4:121091388-121091389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138890292	chr4:121096648-121096649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552868328	chr4:121096698-121096699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191237587	chr4:121096710-121096711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80177145	chr4:121096784-121096785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568563814	chr4:121096919-121096920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548400242	chr4:121096924-121096925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527245125	chr4:121096974-121096975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547110587	chr4:121097039-121097040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567925726	chr4:121097057-121097058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368122105	chr4:121097105-121097106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530372829	chr4:121097108-121097109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550339326	chr4:121097120-121097121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181901121	chr4:121097135-121097136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141459749	chr4:121097154-121097155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537556671	chr4:121097160-121097161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558598308	chr4:121097211-121097212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565853241	chr4:121097268-121097269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535003556	chr4:121097305-121097306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186916819	chr4:121097310-121097311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17011279	chr4:121097313-121097314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542599510	chr4:121097327-121097328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556509960	chr4:121097386-121097387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191161679	chr4:121097393-121097394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79981610	chr4:121097394-121097395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570171750	chr4:121097417-121097418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200658412	chr4:121097468-121097469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564956429	chr4:121097555-121097556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565815997	chr4:121097566-121097567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35739693	chr4:121097586-121097587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527422355	chr4:121097621-121097622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541017219	chr4:121097631-121097632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558296513	chr4:121097637-121097638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121090800-121091400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:121096600-121097000	Weak transcription	Psoas Muscle	Psoas
3	chr4:121097000-121097200	Enhancers	Psoas Muscle	Psoas
4	chr4:121097200-121103000	Weak transcription	Psoas Muscle	Psoas
5	chr4:121103000-121103800	ZNF genes & repeats	Psoas Muscle	Psoas
6	chr4:121105200-121108000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:121112800-121113200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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