Variant report

Variant	esv3368003
Chromosome Location	chr4:158890826-158893896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:158892529-158892605	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158129933..158131783-chr4:158892292..158894632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250475	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545031221	chr4:158890868-158890869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143354690	chr4:158890880-158890881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530569705	chr4:158890899-158890900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550745427	chr4:158890929-158890930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560962287	chr4:158891013-158891014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560030243	chr4:158891024-158891025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546459741	chr4:158891119-158891120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561068699	chr4:158891129-158891130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566443205	chr4:158891142-158891143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373477996	chr4:158891169-158891170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563785069	chr4:158891184-158891185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376508449	chr4:158891215-158891216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531019993	chr4:158891250-158891251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115240956	chr4:158891251-158891252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555127955	chr4:158891314-158891315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77414461	chr4:158891324-158891325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568642435	chr4:158891347-158891348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534410015	chr4:158891361-158891362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150949068	chr4:158891406-158891407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373813690	chr4:158891443-158891444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577615598	chr4:158891444-158891445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76005233	chr4:158891494-158891495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539857198	chr4:158891534-158891535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558310633	chr4:158891553-158891554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575286580	chr4:158891602-158891603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544005944	chr4:158891606-158891607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564939977	chr4:158891623-158891624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532268654	chr4:158891643-158891644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561057543	chr4:158891650-158891651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548929316	chr4:158891658-158891659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529802170	chr4:158891678-158891679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2725492	chr4:158891733-158891734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs140795864	chr4:158891734-158891735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115382832	chr4:158891764-158891765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532318054	chr4:158891789-158891790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552532576	chr4:158891855-158891856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182322034	chr4:158891901-158891902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144589325	chr4:158891909-158891910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138550442	chr4:158891943-158891944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141837599	chr4:158891952-158891953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185710386	chr4:158891973-158891974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375000862	chr4:158892003-158892004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189440161	chr4:158892030-158892031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34566395	chr4:158892042-158892043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143016593	chr4:158892043-158892044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369892498	chr4:158892045-158892046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554454722	chr4:158892090-158892091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571152346	chr4:158892105-158892106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539780185	chr4:158892129-158892130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71607169	chr4:158892164-158892165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158890400-158893000	Weak transcription	Aorta	Aorta
2	chr4:158893000-158893400	ZNF genes & repeats	Aorta	Aorta
3	chr4:158893400-158901200	Weak transcription	Aorta	Aorta

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