Variant report

Variant	esv3438975
Chromosome Location	chr4:96843823-96871545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 667 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12649051	chr4:96843831-96843832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566427961	chr4:96843846-96843847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57634276	chr4:96843872-96843873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191079449	chr4:96843910-96843911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575256214	chr4:96843948-96843949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535442914	chr4:96843950-96843951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537223461	chr4:96843966-96843967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557564250	chr4:96843968-96843969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78758777	chr4:96843998-96843999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75539907	chr4:96843999-96844000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75478995	chr4:96844019-96844020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182310038	chr4:96844023-96844024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114723722	chr4:96844037-96844038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370571958	chr4:96844052-96844053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572863247	chr4:96844075-96844076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374012230	chr4:96844079-96844080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61603588	chr4:96844081-96844082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs57880103	chr4:96844082-96844083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530864346	chr4:96844146-96844147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544194023	chr4:96844188-96844189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59078315	chr4:96844201-96844202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532985273	chr4:96844205-96844206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556041963	chr4:96844248-96844249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79234325	chr4:96844288-96844289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566609170	chr4:96844291-96844292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562633604	chr4:96844330-96844331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569504381	chr4:96844348-96844349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549025575	chr4:96844355-96844356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184907768	chr4:96844356-96844357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537717249	chr4:96844380-96844381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188508215	chr4:96844383-96844384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193169445	chr4:96844404-96844405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185059060	chr4:96844415-96844416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189855762	chr4:96844424-96844425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573048150	chr4:96844484-96844485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181047782	chr4:96844485-96844486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148946299	chr4:96844534-96844535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575570100	chr4:96844542-96844543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143556452	chr4:96844562-96844563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564232790	chr4:96844606-96844607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115585173	chr4:96844617-96844618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377100563	chr4:96844673-96844674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77651454	chr4:96844684-96844685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560264141	chr4:96844688-96844689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536980459	chr4:96844695-96844696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183756217	chr4:96844749-96844750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188134369	chr4:96844759-96844760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148022134	chr4:96844771-96844772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11945155	chr4:96844782-96844783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551217417	chr4:96844816-96844817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96843600-96846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:96844800-96847000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr4:96846400-96855000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:96846800-96847000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:96848000-96848600	ZNF genes & repeats	Dnd41	blood
6	chr4:96848800-96851800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr4:96849000-96849200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr4:96850800-96853400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr4:96851000-96851800	ZNF genes & repeats	Dnd41	blood
10	chr4:96867200-96877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:96869400-96871400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:96870000-96870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:96870000-96871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:96870200-96870800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:96870600-96871000	Enhancers	NH-A	brain

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