Variant report

Variant	esv2432577
Chromosome Location	chr3:78890704-78892129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 78 )

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	rs528994452	chr3:78890725-78890726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549126026	chr3:78890761-78890762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs167944	chr3:78890766-78890767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200449011	chr3:78890771-78890772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555734123	chr3:78890825-78890826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531883220	chr3:78890854-78890855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112710232	chr3:78890860-78890861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376827641	chr3:78890890-78890891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs331133	chr3:78890909-78890910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139343228	chr3:78890939-78890940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141897678	chr3:78890940-78890941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs331134	chr3:78891004-78891005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184434637	chr3:78891079-78891080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190495167	chr3:78891097-78891098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2448779	chr3:78891234-78891235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112475696	chr3:78891280-78891281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115684149	chr3:78891289-78891290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200338486	chr3:78891290-78891291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575409848	chr3:78891293-78891294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34583257	chr3:78891297-78891298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182248040	chr3:78891313-78891314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558018602	chr3:78891317-78891318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577901105	chr3:78891341-78891342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539839815	chr3:78891342-78891343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200748726	chr3:78891373-78891374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199528963	chr3:78891381-78891382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200951282	chr3:78891383-78891384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35813184	chr3:78891384-78891385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200642251	chr3:78891398-78891399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184327490	chr3:78891414-78891415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71626825	chr3:78891431-78891432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559720478	chr3:78891433-78891434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs331135	chr3:78891439-78891440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71626826	chr3:78891456-78891457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71626827	chr3:78891464-78891465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71626828	chr3:78891481-78891482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71626829	chr3:78891489-78891490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189099486	chr3:78891506-78891507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71626830	chr3:78891514-78891515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185282478	chr3:78891539-78891540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35190558	chr3:78891556-78891557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35144022	chr3:78891558-78891559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374564528	chr3:78891589-78891590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62257506	chr3:78891614-78891615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62257507	chr3:78891639-78891640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62257508	chr3:78891664-78891665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558865725	chr3:78891684-78891685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201314777	chr3:78891689-78891690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202243587	chr3:78891700-78891701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201812212	chr3:78891704-78891705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78882000-78894800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:78886200-78895800	Weak transcription	NHLF	lung
3	chr3:78887200-78893000	Enhancers	HepG2	liver
4	chr3:78887800-78896000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:78889000-78894800	Weak transcription	Fetal Lung	lung
6	chr3:78889400-78896000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:78889400-78898800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:78889400-78899000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:78889600-78896200	Weak transcription	A549	lung
10	chr3:78889800-78895800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:78890400-78890800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:78890400-78891000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:78890600-78895800	Weak transcription	Brain Anterior Caudate	brain
14	chr3:78890800-78896000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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