Variant report

Variant	esv3467556
Chromosome Location	chr4:9624254-9631952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 583 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551132179	chr4:9624255-9624256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533866003	chr4:9624256-9624257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555180025	chr4:9624268-9624269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185705215	chr4:9624276-9624277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188557791	chr4:9624282-9624283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562396813	chr4:9624339-9624340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575248861	chr4:9624347-9624348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545845455	chr4:9624379-9624380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568904557	chr4:9624398-9624399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149685592	chr4:9624404-9624405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181348712	chr4:9624414-9624415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540713402	chr4:9624439-9624440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562315181	chr4:9624440-9624441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376213024	chr4:9624445-9624446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551302188	chr4:9624462-9624463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567264513	chr4:9624464-9624465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376444269	chr4:9624465-9624466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200822336	chr4:9624470-9624471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561540661	chr4:9624471-9624472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569536418	chr4:9624472-9624473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112404663	chr4:9624480-9624481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551450994	chr4:9624489-9624490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186313765	chr4:9624495-9624496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566449080	chr4:9624500-9624501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533693995	chr4:9624511-9624512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555044007	chr4:9624520-9624521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567128479	chr4:9624522-9624523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537608839	chr4:9624546-9624547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556056259	chr4:9624567-9624568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577833482	chr4:9624584-9624585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371773779	chr4:9624588-9624589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191167989	chr4:9624618-9624619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533736164	chr4:9624626-9624627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573187113	chr4:9624630-9624631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540732661	chr4:9624641-9624642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373629017	chr4:9624652-9624653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562121702	chr4:9624655-9624656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182491630	chr4:9624660-9624661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529523410	chr4:9624671-9624672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148398840	chr4:9624673-9624674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150327213	chr4:9624677-9624678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533492909	chr4:9624688-9624689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552044930	chr4:9624689-9624690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566394790	chr4:9624710-9624711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567532461	chr4:9624717-9624718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187565304	chr4:9624721-9624722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548677673	chr4:9624723-9624724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142223268	chr4:9624727-9624728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537672566	chr4:9624761-9624762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556316768	chr4:9624765-9624766	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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