Variant report

Variant	esv1838974
Chromosome Location	chr4:98330337-98371858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:98326975..98329466-chr4:98330567..98333090,2	MCF-7	breast:
2	chr4:98356561..98358101-chr4:98363641..98366238,2	MCF-7	breast:
3	chr4:98356561..98358101-chr4:98363641..98366238,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAP1GDS1-4	chr4:98360505-98360572	ENSG00000251620.1
2	lnc-RAP1GDS1-4	chr4:98362561-98362710	ENSG00000251620.1

Extended variants
information (count: 735 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6825634	chr4:98330337-98330338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188611785	chr4:98330341-98330342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367669808	chr4:98330361-98330362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145678522	chr4:98330387-98330388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542155203	chr4:98330411-98330412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148966844	chr4:98330434-98330435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572329707	chr4:98330492-98330493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569309655	chr4:98330533-98330534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181279955	chr4:98330539-98330540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564981243	chr4:98330558-98330559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116460642	chr4:98330568-98330569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145685077	chr4:98330663-98330664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529961597	chr4:98330740-98330741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548508260	chr4:98330751-98330752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146495130	chr4:98330758-98330759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527497655	chr4:98330814-98330815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185851304	chr4:98330879-98330880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570899535	chr4:98330958-98330959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537997854	chr4:98331032-98331033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75244460	chr4:98331046-98331047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371546986	chr4:98331064-98331065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568370276	chr4:98331131-98331132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114832696	chr4:98331197-98331198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554061530	chr4:98331215-98331216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571087467	chr4:98331230-98331231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572442868	chr4:98331268-98331269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539625651	chr4:98331287-98331288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140985995	chr4:98331341-98331342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538909826	chr4:98331366-98331367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190657189	chr4:98331367-98331368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144747084	chr4:98331427-98331428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543982475	chr4:98331451-98331452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553299408	chr4:98331458-98331459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111687905	chr4:98331518-98331519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60481717	chr4:98331525-98331526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187386231	chr4:98331533-98331534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141303061	chr4:98331551-98331552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199956698	chr4:98331636-98331637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150298374	chr4:98331658-98331659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190661709	chr4:98331709-98331710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564163565	chr4:98331774-98331775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137902867	chr4:98331894-98331895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550007819	chr4:98331945-98331946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182902485	chr4:98331967-98331968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377623569	chr4:98332027-98332028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575691820	chr4:98332039-98332040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200152012	chr4:98332080-98332081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535443729	chr4:98332086-98332087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375077132	chr4:98332173-98332174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573678866	chr4:98332174-98332175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98326200-98332800	Weak transcription	Liver	Liver
2	chr4:98332400-98332800	Enhancers	Ovary	ovary
3	chr4:98332800-98334600	Enhancers	Liver	Liver
4	chr4:98335400-98335800	Active TSS	Fetal Heart	heart
5	chr4:98358400-98358600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:98358400-98359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:98358600-98359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:98359600-98359800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:98359600-98359800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:98359600-98359800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:98359800-98368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:98359800-98368600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:98368200-98369200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr4:98368600-98369000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:98368600-98369200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:98368600-98369200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:98369000-98369400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:98369200-98373400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:98369200-98374400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:98369400-98372200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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