Variant report

Variant	esv2450073
Chromosome Location	chr4:144041359-144043213
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	chr4:144036017..144038747-chr4:144041790..144044255,2	K562	blood:
2	chr4:144040234..144042737-chr4:144104934..144107567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250326	chromatin interactions
ENSG00000170185	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192859253	chr4:144041374-144041375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574422013	chr4:144041393-144041394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544900702	chr4:144041441-144041442	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556867496	chr4:144041466-144041467	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562037061	chr4:144041468-144041469	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545348764	chr4:144041500-144041501	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560389142	chr4:144041541-144041542	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527783874	chr4:144041558-144041559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367651934	chr4:144041593-144041594	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560726218	chr4:144041598-144041599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531373426	chr4:144041623-144041624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548958593	chr4:144041644-144041645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549677489	chr4:144041652-144041653	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79808374	chr4:144041662-144041663	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76813372	chr4:144041663-144041664	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573957180	chr4:144041676-144041677	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532014364	chr4:144041686-144041687	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145307580	chr4:144041725-144041726	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185426165	chr4:144041728-144041729	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565732744	chr4:144041729-144041730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371929016	chr4:144041751-144041752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4579067	chr4:144041828-144041829	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556026480	chr4:144041873-144041874	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567880113	chr4:144041903-144041904	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142142522	chr4:144041916-144041917	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556590481	chr4:144041953-144041954	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373834388	chr4:144042019-144042020	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146406224	chr4:144042025-144042026	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554129364	chr4:144042065-144042066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138320837	chr4:144042125-144042126	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542733425	chr4:144042146-144042147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561009583	chr4:144042163-144042164	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575839523	chr4:144042173-144042174	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543166228	chr4:144042177-144042178	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565080086	chr4:144042192-144042193	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532427659	chr4:144042292-144042293	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs547110914	chr4:144042324-144042325	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187969052	chr4:144042345-144042346	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529686657	chr4:144042357-144042358	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149570555	chr4:144042530-144042531	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569727388	chr4:144042558-144042559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192822465	chr4:144042589-144042590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374580631	chr4:144042653-144042654	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75098105	chr4:144042670-144042671	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571890985	chr4:144042678-144042679	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs36028599	chr4:144042715-144042716	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536523910	chr4:144042716-144042717	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34154365	chr4:144042731-144042732	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539306264	chr4:144042737-144042738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	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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