Variant report

Variant	esv994843
Chromosome Location	chr4:150699743-150705034
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	chr4:150704577..150707428-chr4:150761140..150764079,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRBA-2	chr4:150701383-150701476	ENSG00000234828

Extended variants
information (count: 179 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs370074733	chr4:150700014-150700015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544090763	chr4:150700015-150700016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563964105	chr4:150700027-150700028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149290317	chr4:150700039-150700040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552585680	chr4:150700088-150700089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113022036	chr4:150700145-150700146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200134026	chr4:150700176-150700177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528546332	chr4:150700205-150700206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144511006	chr4:150700218-150700219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530328431	chr4:150700235-150700236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187352434	chr4:150700286-150700287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148425311	chr4:150700327-150700328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560402371	chr4:150700337-150700338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527925506	chr4:150700402-150700403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552330932	chr4:150700408-150700409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78557140	chr4:150700417-150700418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193280483	chr4:150700440-150700441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534937859	chr4:150700445-150700446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34839640	chr4:150700451-150700452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552517732	chr4:150700477-150700478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79349613	chr4:150700494-150700495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566584374	chr4:150700520-150700521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535158776	chr4:150700523-150700524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555156249	chr4:150700556-150700557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1505476	chr4:150700592-150700593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549929825	chr4:150700617-150700618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370771110	chr4:150700625-150700626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574460083	chr4:150700637-150700638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557718057	chr4:150700643-150700644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568396149	chr4:150700650-150700651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144013263	chr4:150700699-150700700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185620317	chr4:150700732-150700733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559437874	chr4:150700747-150700748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528593704	chr4:150700821-150700822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113769995	chr4:150700883-150700884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145940200	chr4:150700887-150700888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12639688	chr4:150700888-150700889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1505475	chr4:150700895-150700896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12502213	chr4:150700910-150700911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554944997	chr4:150700911-150700912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377647759	chr4:150700957-150700958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570429149	chr4:150700961-150700962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35631675	chr4:150700963-150700964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533030470	chr4:150701025-150701026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115485180	chr4:150701054-150701055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534007405	chr4:150701069-150701070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573179454	chr4:150701086-150701087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72961785	chr4:150701117-150701118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535423310	chr4:150701147-150701148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79916017	chr4:150701148-150701149	Enhancers	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
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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150700000-150703400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:150700800-150704400	Enhancers	Hela-S3	cervix
3	chr4:150701000-150701200	Enhancers	NHLF	lung
4	chr4:150701400-150702400	Weak transcription	NHLF	lung
5	chr4:150701800-150702800	Enhancers	Osteobl	bone
6	chr4:150701800-150703000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:150701800-150703000	Enhancers	HSMM	muscle
8	chr4:150701800-150703200	Enhancers	HMEC	breast
9	chr4:150701800-150703200	Enhancers	NHEK	skin
10	chr4:150702000-150702200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:150702000-150702600	Enhancers	NH-A	brain
12	chr4:150702000-150703000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:150702000-150703000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:150702200-150702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:150702200-150702800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:150702200-150703000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:150702400-150703000	Enhancers	NHLF	lung
18	chr4:150702800-150703000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:150702800-150707200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:150703000-150704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:150703000-150706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:150703000-150706800	Weak transcription	HSMM	muscle
23	chr4:150703000-150714400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:150703200-150705000	Weak transcription	HMEC	breast
25	chr4:150703200-150705000	Weak transcription	NHEK	skin
26	chr4:150704400-150707200	Weak transcription	Hela-S3	cervix
27	chr4:150704800-150705200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:150705000-150705600	Enhancers	HMEC	breast
29	chr4:150705000-150705600	Enhancers	NHEK	skin

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