Variant report

Variant	esv2287575
Chromosome Location	chr4:98110466-98111180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568932366	chr4:98110476-98110477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183122011	chr4:98110520-98110521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554527027	chr4:98110524-98110525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373472796	chr4:98110530-98110531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545330531	chr4:98110536-98110537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540631224	chr4:98110586-98110587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559124382	chr4:98110658-98110659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577403229	chr4:98110659-98110660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544687704	chr4:98110660-98110661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563098042	chr4:98110704-98110705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560017444	chr4:98110729-98110730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375624943	chr4:98110886-98110887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370217751	chr4:98110916-98110917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371540492	chr4:98110938-98110939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56258989	chr4:98110939-98110940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10001846	chr4:98110949-98110950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4266301	chr4:98110950-98110951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs70953054	chr4:98110967-98110968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113444580	chr4:98110970-98110971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530190775	chr4:98110975-98110976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78769163	chr4:98110980-98110981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542547548	chr4:98110994-98110995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187821731	chr4:98111038-98111039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192562613	chr4:98111107-98111108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370566649	chr4:98111110-98111111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570874056	chr4:98111156-98111157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149832888	chr4:98111159-98111160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56031057	chr4:98111163-98111164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98110400-98110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:98110400-98111200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:98110400-98114800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:98110800-98111400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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