Variant report

Variant	esv3449178
Chromosome Location	chr4:186955414-186956218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544074314	chr4:186955418-186955419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12649720	chr4:186955423-186955424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77685608	chr4:186955437-186955438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563564581	chr4:186955438-186955439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79309388	chr4:186955445-186955446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199807699	chr4:186955465-186955466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200791260	chr4:186955466-186955467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201964263	chr4:186955467-186955468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201363805	chr4:186955481-186955482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28398901	chr4:186955512-186955513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76848562	chr4:186955515-186955516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12650402	chr4:186955518-186955519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7671300	chr4:186955526-186955527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529415010	chr4:186955538-186955539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76098689	chr4:186955555-186955556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28756200	chr4:186955556-186955557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62335292	chr4:186955558-186955559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62335293	chr4:186955563-186955564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55954435	chr4:186955570-186955571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57450353	chr4:186955571-186955572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549072902	chr4:186955573-186955574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28584458	chr4:186955579-186955580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62335294	chr4:186955600-186955601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62335295	chr4:186955603-186955604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7671268	chr4:186955612-186955613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113797555	chr4:186955615-186955616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28436208	chr4:186955616-186955617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200514936	chr4:186955632-186955633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112189259	chr4:186955647-186955648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111436285	chr4:186955653-186955654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559372001	chr4:186955655-186955656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76911355	chr4:186955661-186955662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112613428	chr4:186955747-186955748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111781923	chr4:186955750-186955751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112768071	chr4:186955751-186955752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62335296	chr4:186955757-186955758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528560755	chr4:186955759-186955760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551523235	chr4:186955766-186955767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111823372	chr4:186955782-186955783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111561985	chr4:186955788-186955789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373029858	chr4:186955795-186955796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111351948	chr4:186955796-186955797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539378314	chr4:186955812-186955813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376478499	chr4:186955827-186955828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371102502	chr4:186955833-186955834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550021335	chr4:186955836-186955837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569880980	chr4:186955840-186955841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373862541	chr4:186955841-186955842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376305300	chr4:186955849-186955850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555599892	chr4:186955853-186955854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186952800-186959200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:186953000-186955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:186953400-186958000	Weak transcription	Right Ventricle	heart
4	chr4:186953600-186956800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:186954000-186955800	Weak transcription	Fetal Kidney	kidney
6	chr4:186954800-186956000	Weak transcription	Fetal Brain Male	brain
7	chr4:186954800-186956200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr4:186955200-186956600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr4:186955400-186956400	ZNF genes & repeats	Fetal Heart	heart
10	chr4:186955600-186956000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr4:186955800-186956600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr4:186955800-186956600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:186955800-186956600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr4:186956000-186956400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr4:186956200-186956400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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