Variant report

Variant	esv3377917
Chromosome Location	chr4:105877553-105879701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:105877680..105879591-chr4:105886038..105888708,2	MCF-7	breast:
2	chr4:105877414..105879443-chr4:106066588..106068877,2	MCF-7	breast:
3	chr4:105877746..105880417-chr4:105883810..105885647,2	MCF-7	breast:
4	chr4:105878760..105880901-chr4:105885871..105887745,2	MCF-7	breast:
5	chr4:105871816..105874032-chr4:105876164..105879161,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248242	chromatin interactions
ENSG00000168769	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557290753	chr4:105877565-105877566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573921029	chr4:105877568-105877569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75136230	chr4:105877569-105877570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553614327	chr4:105877582-105877583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573464812	chr4:105877596-105877597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534757245	chr4:105877651-105877652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562283213	chr4:105877666-105877667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77267275	chr4:105877727-105877728	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141174421	chr4:105877737-105877738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532787776	chr4:105877788-105877789	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577600563	chr4:105877803-105877804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183032628	chr4:105877813-105877814	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563265456	chr4:105877885-105877886	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs386678051	chr4:105877890-105877891	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs62331063	chr4:105877891-105877892	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559172717	chr4:105877923-105877924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528252035	chr4:105877925-105877926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559901177	chr4:105877937-105877938	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551496230	chr4:105877955-105877956	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs76990900	chr4:105877966-105877967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187437459	chr4:105877967-105877968	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368106261	chr4:105878049-105878050	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs72949461	chr4:105878055-105878056	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148016135	chr4:105878077-105878078	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28485439	chr4:105878090-105878091	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192363452	chr4:105878120-105878121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567097226	chr4:105878179-105878180	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112118508	chr4:105878199-105878200	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375769189	chr4:105878215-105878216	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs3974425	chr4:105878262-105878263	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370038363	chr4:105878263-105878264	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35614724	chr4:105878287-105878288	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs183287137	chr4:105878295-105878296	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35193591	chr4:105878296-105878297	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs36011903	chr4:105878306-105878307	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113274165	chr4:105878307-105878308	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562239731	chr4:105878318-105878319	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368085744	chr4:105878329-105878330	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200692354	chr4:105878337-105878338	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371761922	chr4:105878349-105878350	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374079275	chr4:105878352-105878353	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34101017	chr4:105878359-105878360	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375086055	chr4:105878361-105878362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377683152	chr4:105878364-105878365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370035687	chr4:105878377-105878378	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537100934	chr4:105878380-105878381	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374611834	chr4:105878384-105878385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377267501	chr4:105878387-105878388	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373855371	chr4:105878394-105878395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377179654	chr4:105878396-105878397	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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