Variant report

Variant	esv1793892
Chromosome Location	chr4:121082357-121093361
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	chr4:120988596..120990170-chr4:121080844..121082631,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-6	chr4:121086645-121087047	ENSG00000250938.1

Variant related genes	Relation type
ENSG00000250938	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10034734	chr4:121082357-121082358	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192142745	chr4:121082376-121082377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182723172	chr4:121082379-121082380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547246644	chr4:121082426-121082427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572643700	chr4:121082430-121082431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537077206	chr4:121082529-121082530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534898409	chr4:121082556-121082557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554597128	chr4:121082576-121082577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10012651	chr4:121082611-121082612	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368268201	chr4:121082628-121082629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543379023	chr4:121082676-121082677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141209226	chr4:121082692-121082693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563728483	chr4:121082695-121082696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576252862	chr4:121082698-121082699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6815652	chr4:121082723-121082724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs62321814	chr4:121082740-121082741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59648491	chr4:121082776-121082777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547632435	chr4:121082793-121082794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544802857	chr4:121082810-121082811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115641851	chr4:121082811-121082812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148212557	chr4:121082836-121082837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142740436	chr4:121082871-121082872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572203558	chr4:121082892-121082893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113268324	chr4:121082941-121082942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569682216	chr4:121082976-121082977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538957178	chr4:121082994-121082995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541330951	chr4:121083005-121083006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72918131	chr4:121083018-121083019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566246686	chr4:121083112-121083113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534861988	chr4:121083130-121083131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554865062	chr4:121083177-121083178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114693143	chr4:121083194-121083195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113496740	chr4:121083214-121083215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574578449	chr4:121083220-121083221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537194195	chr4:121083225-121083226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75982991	chr4:121083248-121083249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577128289	chr4:121083322-121083323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577239638	chr4:121083386-121083387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2101741	chr4:121083394-121083395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2101740	chr4:121083395-121083396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187942446	chr4:121083413-121083414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543476619	chr4:121083416-121083417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193086028	chr4:121083430-121083431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572383484	chr4:121083438-121083439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541210656	chr4:121083458-121083459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74844341	chr4:121083476-121083477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13135409	chr4:121083481-121083482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532292374	chr4:121083492-121083493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552447774	chr4:121083502-121083503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529813427	chr4:121083521-121083522	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121068800-121084000	Weak transcription	Psoas Muscle	Psoas
2	chr4:121084000-121084200	Enhancers	Psoas Muscle	Psoas
3	chr4:121084200-121085000	Weak transcription	Psoas Muscle	Psoas
4	chr4:121084400-121085800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr4:121085000-121085400	Enhancers	Adipose Nuclei	Adipose
6	chr4:121085000-121085400	Enhancers	Aorta	Aorta
7	chr4:121085000-121085400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:121085000-121085600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:121085000-121085800	Enhancers	Psoas Muscle	Psoas
10	chr4:121085200-121085600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:121085200-121085800	Enhancers	Left Ventricle	heart
12	chr4:121085400-121086400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:121085400-121086600	Weak transcription	Aorta	Aorta
14	chr4:121085800-121086600	Weak transcription	Psoas Muscle	Psoas
15	chr4:121086600-121086800	ZNF genes & repeats	Aorta	Aorta
16	chr4:121086600-121086800	Enhancers	Psoas Muscle	Psoas
17	chr4:121086600-121086800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:121090800-121091400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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