Variant report

Variant	esv3332816
Chromosome Location	chr4:91877729-91879877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538651308	chr4:91877754-91877755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151304594	chr4:91877763-91877764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368493272	chr4:91877778-91877779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182568009	chr4:91877798-91877799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540862125	chr4:91877870-91877871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77601706	chr4:91877895-91877896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34175078	chr4:91877918-91877919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201676584	chr4:91877934-91877935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59559965	chr4:91877937-91877938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574817381	chr4:91877997-91877998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543871250	chr4:91878036-91878037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35180536	chr4:91878095-91878096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386400798	chr4:91878096-91878097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373127225	chr4:91878110-91878111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188430859	chr4:91878164-91878165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11097284	chr4:91878220-91878221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373689609	chr4:91878285-91878286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567131599	chr4:91878315-91878316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559615474	chr4:91878335-91878336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528820227	chr4:91878377-91878378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35837427	chr4:91878396-91878397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151242297	chr4:91878404-91878405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546278731	chr4:91878410-91878411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13106143	chr4:91878427-91878428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192635318	chr4:91878587-91878588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549865482	chr4:91878613-91878614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569774062	chr4:91878640-91878641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59886126	chr4:91878667-91878668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538638744	chr4:91878675-91878676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59726185	chr4:91878676-91878677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60518177	chr4:91878686-91878687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60601499	chr4:91878704-91878705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537766483	chr4:91878708-91878709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58731204	chr4:91878709-91878710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557008853	chr4:91878711-91878712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56695485	chr4:91878717-91878718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535526828	chr4:91878718-91878719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58022683	chr4:91878725-91878726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58937750	chr4:91878732-91878733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60891113	chr4:91878738-91878739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145652920	chr4:91878742-91878743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534947941	chr4:91878750-91878751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554590414	chr4:91878751-91878752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539022599	chr4:91878760-91878761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147722274	chr4:91878776-91878777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550619509	chr4:91878792-91878793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199875394	chr4:91878797-91878798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541511010	chr4:91878804-91878805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71611414	chr4:91878814-91878815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10553389	chr4:91878852-91878853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91871800-91879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:91872000-91879600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:91872200-91878200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:91872200-91879000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:91872200-91885600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:91873200-91879000	Weak transcription	Hela-S3	cervix
7	chr4:91876600-91879200	Weak transcription	A549	lung
8	chr4:91877200-91879200	Weak transcription	Fetal Kidney	kidney
9	chr4:91878200-91878400	Enhancers	Fetal Intestine Small	intestine
10	chr4:91878400-91879000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:91879000-91879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:91879000-91880000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:91879000-91880000	Enhancers	Fetal Intestine Small	intestine
14	chr4:91879000-91880000	Enhancers	NH-A	brain
15	chr4:91879000-91880200	Enhancers	Fetal Intestine Large	intestine
16	chr4:91879000-91880200	Enhancers	HMEC	breast
17	chr4:91879000-91880600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:91879000-91881200	Enhancers	Hela-S3	cervix
19	chr4:91879200-91879600	Enhancers	Fetal Kidney	kidney
20	chr4:91879200-91880600	Enhancers	A549	lung
21	chr4:91879600-91879800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:91879600-91880000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:91879600-91880000	Enhancers	NHEK	skin
24	chr4:91879600-91880200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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