Variant report

Variant	esv3378327
Chromosome Location	chr4:186954965-186955981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527753596	chr4:186954983-186954984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28405786	chr4:186955015-186955016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28385515	chr4:186955016-186955017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28530660	chr4:186955023-186955024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28515942	chr4:186955026-186955027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565749466	chr4:186955030-186955031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113411044	chr4:186955041-186955042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7665214	chr4:186955060-186955061	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7665038	chr4:186955061-186955062	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7665542	chr4:186955072-186955073	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539710320	chr4:186955084-186955085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7665684	chr4:186955085-186955086	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113122583	chr4:186955086-186955087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556117387	chr4:186955105-186955106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7665719	chr4:186955130-186955131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113181735	chr4:186955131-186955132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34855069	chr4:186955175-186955176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28582976	chr4:186955176-186955177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36172505	chr4:186955195-186955196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576282230	chr4:186955206-186955207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28453860	chr4:186955210-186955211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28482397	chr4:186955220-186955221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12640786	chr4:186955221-186955222	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535566113	chr4:186955243-186955244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555461751	chr4:186955249-186955250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572073645	chr4:186955251-186955252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540717742	chr4:186955252-186955253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141183235	chr4:186955265-186955266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28609854	chr4:186955296-186955297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372224452	chr4:186955297-186955298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28733428	chr4:186955302-186955303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76883714	chr4:186955341-186955342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77521012	chr4:186955347-186955348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77346701	chr4:186955355-186955356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79880680	chr4:186955386-186955387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78526363	chr4:186955391-186955392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75225074	chr4:186955392-186955393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78102664	chr4:186955398-186955399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74578910	chr4:186955403-186955404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564101336	chr4:186955410-186955411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578214020	chr4:186955412-186955413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544074314	chr4:186955418-186955419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12649720	chr4:186955423-186955424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77685608	chr4:186955437-186955438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563564581	chr4:186955438-186955439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79309388	chr4:186955445-186955446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199807699	chr4:186955465-186955466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200791260	chr4:186955466-186955467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201964263	chr4:186955467-186955468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201363805	chr4:186955481-186955482	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:14 , 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	chr4:186954000-186955400	Weak transcription	Fetal Heart	heart
6	chr4:186954000-186955800	Weak transcription	Fetal Kidney	kidney
7	chr4:186954800-186956000	Weak transcription	Fetal Brain Male	brain
8	chr4:186954800-186956200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr4:186955200-186956600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr4:186955400-186956400	ZNF genes & repeats	Fetal Heart	heart
11	chr4:186955600-186956000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr4:186955800-186956600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr4:186955800-186956600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:186955800-186956600	ZNF genes & repeats	Fetal Kidney	kidney

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