Variant report

Variant	esv2550392
Chromosome Location	chr4:98424040-98425746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190346802	chr4:98424063-98424064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547489987	chr4:98424077-98424078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77633438	chr4:98424079-98424080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539401370	chr4:98424110-98424111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551094292	chr4:98424208-98424209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183017865	chr4:98424333-98424334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569931881	chr4:98424344-98424345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113009387	chr4:98424393-98424394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192366563	chr4:98424415-98424416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544133629	chr4:98424504-98424505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534530097	chr4:98424566-98424567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575940951	chr4:98424583-98424584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112718369	chr4:98424591-98424592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368874971	chr4:98424622-98424623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78973765	chr4:98424645-98424646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376721288	chr4:98424654-98424655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563578116	chr4:98424740-98424741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575882387	chr4:98424795-98424796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139328584	chr4:98424839-98424840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561651622	chr4:98424864-98424865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183930911	chr4:98424887-98424888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6845428	chr4:98424901-98424902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74211467	chr4:98425059-98425060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56927672	chr4:98425091-98425092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57778018	chr4:98425094-98425095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60553957	chr4:98425101-98425102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57708726	chr4:98425104-98425105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60452023	chr4:98425110-98425111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59448093	chr4:98425117-98425118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59084734	chr4:98425124-98425125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61612583	chr4:98425125-98425126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55723446	chr4:98425150-98425151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56032977	chr4:98425156-98425157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59067477	chr4:98425157-98425158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56076949	chr4:98425163-98425164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192411698	chr4:98425295-98425296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533108421	chr4:98425397-98425398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115448451	chr4:98425442-98425443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569585143	chr4:98425545-98425546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2865798	chr4:98425582-98425583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs548978039	chr4:98425699-98425700	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567238415	chr4:98425709-98425710	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535291461	chr4:98425737-98425738	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98420400-98425400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:98420400-98425400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:98420600-98424600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:98420600-98425600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:98421000-98425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:98421000-98426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:98422200-98425600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:98422400-98428600	Weak transcription	HMEC	breast
9	chr4:98424000-98425400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:98424600-98425000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:98425000-98425200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:98425200-98427000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:98425400-98425600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:98425400-98426800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:98425400-98426800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:98425600-98425800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:98425600-98426600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:98425600-98426800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:98425600-98427000	Enhancers	HUES6 Cell Line	embryonic stem cell

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