Variant report

Variant	esv1848103
Chromosome Location	chr4:172376220-172383439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214429883..214430693-chr4:172382652..172383247,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543926014	chr4:172381418-172381419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1222970	chr4:172381431-172381432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540061049	chr4:172381443-172381444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556684651	chr4:172381454-172381455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6837679	chr4:172381465-172381466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568395388	chr4:172381520-172381521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112299040	chr4:172381526-172381527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35188354	chr4:172381547-172381548	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546393060	chr4:172381556-172381557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560107414	chr4:172381577-172381578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573418779	chr4:172381586-172381587	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550153928	chr4:172381669-172381670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567089449	chr4:172381711-172381712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200637324	chr4:172381750-172381751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369547581	chr4:172381766-172381767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549446652	chr4:172381768-172381769	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180957158	chr4:172381791-172381792	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375589982	chr4:172382402-172382403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539935264	chr4:172382403-172382404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35716873	chr4:172382408-172382409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66818376	chr4:172382413-172382414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553570288	chr4:172382426-172382427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145216108	chr4:172382436-172382437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536173142	chr4:172382437-172382438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533217508	chr4:172382446-172382447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34880163	chr4:172382532-172382533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186772071	chr4:172382570-172382571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191283713	chr4:172382599-172382600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183086059	chr4:172382602-172382603	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562655561	chr4:172382604-172382605	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576571540	chr4:172382625-172382626	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531553395	chr4:172382646-172382647	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187279342	chr4:172382667-172382668	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376735376	chr4:172382670-172382671	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34094005	chr4:172382690-172382691	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528297315	chr4:172382702-172382703	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6855148	chr4:172382775-172382776	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541976295	chr4:172382809-172382810	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189782374	chr4:172382810-172382811	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376570429	chr4:172382836-172382837	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530779937	chr4:172382893-172382894	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182432335	chr4:172382895-172382896	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1497647	chr4:172382933-172382934	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187870845	chr4:172382942-172382943	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193098432	chr4:172382956-172382957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201614645	chr4:172382969-172382970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1497646	chr4:172382970-172382971	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535685590	chr4:172382972-172382973	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539500336	chr4:172382990-172382991	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556486154	chr4:172383019-172383020	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172381400-172381800	Active TSS	Fetal Heart	heart
2	chr4:172382400-172383000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:172382400-172383200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:172382600-172383000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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