Variant report

Variant	esv20373
Chromosome Location	chr4:9620809-9632891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 924 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191237462	chr4:9620814-9620815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561950590	chr4:9620841-9620842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149510424	chr4:9620858-9620859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541410590	chr4:9620861-9620862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199585034	chr4:9620862-9620863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145402504	chr4:9620880-9620881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530825034	chr4:9620899-9620900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552118798	chr4:9620908-9620909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148782827	chr4:9620938-9620939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528614614	chr4:9620948-9620949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111882529	chr4:9620950-9620951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546769300	chr4:9620951-9620952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142404808	chr4:9620977-9620978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535627034	chr4:9620989-9620990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575444429	chr4:9620990-9620991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557695499	chr4:9620993-9620994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6448879	chr4:9620994-9620995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539459173	chr4:9621002-9621003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6448880	chr4:9621023-9621024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112905485	chr4:9621041-9621042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528245313	chr4:9621090-9621091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13150882	chr4:9621101-9621102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112837909	chr4:9621107-9621108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573784558	chr4:9621115-9621116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6448881	chr4:9621124-9621125	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6448882	chr4:9621131-9621132	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138647140	chr4:9621141-9621142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544882200	chr4:9621144-9621145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375612062	chr4:9621182-9621183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564180267	chr4:9621185-9621186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528473358	chr4:9621197-9621198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570370824	chr4:9621212-9621213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547072691	chr4:9621218-9621219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201542027	chr4:9621231-9621232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34945734	chr4:9621244-9621245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561999584	chr4:9621264-9621265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548223045	chr4:9621266-9621267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184811577	chr4:9621287-9621288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551164724	chr4:9621290-9621291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569449648	chr4:9621310-9621311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187650204	chr4:9621318-9621319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75605530	chr4:9621321-9621322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552096998	chr4:9621330-9621331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537355901	chr4:9621331-9621332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6838199	chr4:9621333-9621334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76390665	chr4:9621362-9621363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78924908	chr4:9621363-9621364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10012404	chr4:9621365-9621366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138086759	chr4:9621370-9621371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76569503	chr4:9621390-9621391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9619400-9621000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:9619400-9621200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:9619800-9628200	Weak transcription	Ovary	ovary
4	chr4:9624800-9637600	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:9625200-9629400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:9626000-9631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:9626800-9631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:9627000-9639000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:9627400-9630600	Weak transcription	Fetal Brain Female	brain
10	chr4:9627800-9634400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:9628200-9630400	Strong transcription	Ovary	ovary
12	chr4:9628600-9630800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:9629400-9630000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr4:9630000-9631600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:9630400-9632000	Weak transcription	Ovary	ovary

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