Variant report

Variant	esv1806444
Chromosome Location	chr4:9626304-9630402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6837106	chr4:9626304-9626305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557863952	chr4:9626305-9626306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375490528	chr4:9626308-9626309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112410592	chr4:9626309-9626310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565807433	chr4:9626315-9626316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572979082	chr4:9626318-9626319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533977076	chr4:9626332-9626333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150742626	chr4:9626354-9626355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554774666	chr4:9626356-9626357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139065080	chr4:9626404-9626405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537794513	chr4:9626405-9626406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10049735	chr4:9626409-9626410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185801209	chr4:9626427-9626428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191058518	chr4:9626459-9626460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544119483	chr4:9626468-9626469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114409660	chr4:9626469-9626470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574613791	chr4:9626491-9626492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182087293	chr4:9626499-9626500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563517223	chr4:9626511-9626512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544912063	chr4:9626520-9626521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6837700	chr4:9626577-9626578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546087553	chr4:9626588-9626589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564189656	chr4:9626611-9626612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186417232	chr4:9626629-9626630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545599276	chr4:9626635-9626636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190738964	chr4:9626651-9626652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560339405	chr4:9626658-9626659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6842702	chr4:9626659-9626660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530171297	chr4:9626681-9626682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6836718	chr4:9626703-9626704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570236134	chr4:9626726-9626727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112965364	chr4:9626752-9626753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144485974	chr4:9626755-9626756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6836875	chr4:9626757-9626758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571031755	chr4:9626780-9626781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534385779	chr4:9626781-9626782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183313449	chr4:9626790-9626791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10005582	chr4:9626791-9626792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28624152	chr4:9626792-9626793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535594233	chr4:9626793-9626794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557052516	chr4:9626794-9626795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575410185	chr4:9626799-9626800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13129861	chr4:9626802-9626803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74748969	chr4:9626817-9626818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150765751	chr4:9626832-9626833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182861427	chr4:9626841-9626842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115489970	chr4:9626885-9626886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148871815	chr4:9626894-9626895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10005684	chr4:9626897-9626898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548287725	chr4:9626898-9626899	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9619800-9628200	Weak transcription	Ovary	ovary
2	chr4:9624800-9637600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:9625200-9629400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:9626000-9631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:9626800-9631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:9627000-9639000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:9627400-9630600	Weak transcription	Fetal Brain Female	brain
8	chr4:9627800-9634400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:9628200-9630400	Strong transcription	Ovary	ovary
10	chr4:9628600-9630800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:9629400-9630000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr4:9630000-9631600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:9630400-9632000	Weak transcription	Ovary	ovary

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