Variant report

Variant	esv2760816
Chromosome Location	chr4:120609268-120614296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-4	chr4:120610321-120610372	XLOC_003669

Extended variants
information (count: 145 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76703435	chr4:120609319-120609320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148154037	chr4:120609330-120609331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369649944	chr4:120609407-120609408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561843351	chr4:120609420-120609421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536125593	chr4:120609423-120609424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs68057189	chr4:120609515-120609516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7435937	chr4:120609518-120609519	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs535265330	chr4:120609520-120609521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72436702	chr4:120609522-120609523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57171255	chr4:120609525-120609526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2253049	chr4:120609546-120609547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542102783	chr4:120609547-120609548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2253048	chr4:120609570-120609571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs137878110	chr4:120609575-120609576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577823190	chr4:120609587-120609588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142465525	chr4:120609598-120609599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145955292	chr4:120609673-120609674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2252946	chr4:120609709-120609710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2252945	chr4:120609724-120609725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546800486	chr4:120609865-120609866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2715023	chr4:120609868-120609869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148774719	chr4:120609878-120609879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185123813	chr4:120609905-120609906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190404662	chr4:120609963-120609964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538260985	chr4:120609998-120609999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558158233	chr4:120610120-120610121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182244786	chr4:120610133-120610134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543230475	chr4:120610172-120610173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141540927	chr4:120610188-120610189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370598491	chr4:120610273-120610274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186192766	chr4:120610274-120610275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572970087	chr4:120610319-120610320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78225248	chr4:120610332-120610333	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150872396	chr4:120610416-120610417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575419937	chr4:120610456-120610457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566501020	chr4:120610461-120610462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563699271	chr4:120610480-120610481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189821505	chr4:120610498-120610499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10018153	chr4:120610535-120610536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs139435434	chr4:120610609-120610610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529477075	chr4:120610683-120610684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555079891	chr4:120610757-120610758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145653163	chr4:120610785-120610786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368515291	chr4:120610810-120610811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569077543	chr4:120610831-120610832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147248581	chr4:120610868-120610869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545347728	chr4:120610887-120610888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538072444	chr4:120610894-120610895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60972328	chr4:120610928-120610929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180826514	chr4:120610933-120610934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120609200-120610400	Enhancers	Fetal Stomach	stomach
2	chr4:120610400-120611800	Weak transcription	Fetal Stomach	stomach
3	chr4:120611800-120612000	Enhancers	Fetal Stomach	stomach
4	chr4:120612200-120612400	Bivalent Enhancer	HUVEC	blood vessel
5	chr4:120612800-120613000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:120612800-120613400	Enhancers	NHLF	lung
7	chr4:120612800-120614200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:120612800-120614200	Enhancers	Osteobl	bone
9	chr4:120612800-120615600	Enhancers	NHDF-Ad	bronchial
10	chr4:120613000-120613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:120613000-120613200	Enhancers	Fetal Muscle Leg	muscle
12	chr4:120613000-120613400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:120613000-120613600	Enhancers	Colon Smooth Muscle	Colon
14	chr4:120613000-120614000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:120613000-120614000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:120613000-120614400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:120613000-120614600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:120613000-120615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:120613200-120613400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:120613400-120613800	Flanking Active TSS	NHLF	lung
21	chr4:120613400-120614200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:120613400-120614400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:120613800-120614400	Active TSS	Fetal Muscle Leg	muscle
24	chr4:120613800-120614600	Active TSS	NHLF	lung
25	chr4:120614000-120614200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:120614000-120614600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:120614200-120614400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:120614200-120614400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:120614200-120614600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:120614200-120614600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:120614200-120614600	Flanking Active TSS	Osteobl	bone

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