Variant report

Variant	esv2763268
Chromosome Location	chr3:54764833-54768234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72872275	chr3:54764917-54764918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557397115	chr3:54764930-54764931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568234587	chr3:54764945-54764946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142934946	chr3:54764947-54764948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576852087	chr3:54764961-54764962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370710760	chr3:54764997-54764998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577312268	chr3:54765003-54765004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550754060	chr3:54765004-54765005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150658598	chr3:54765054-54765055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539691164	chr3:54765082-54765083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546262039	chr3:54765083-54765084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139997690	chr3:54765114-54765115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573938923	chr3:54765142-54765143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535084052	chr3:54765168-54765169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555364883	chr3:54765172-54765173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182435032	chr3:54765189-54765190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544901588	chr3:54765240-54765241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72448927	chr3:54765256-54765257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367940508	chr3:54765259-54765260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564295436	chr3:54765270-54765271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540817461	chr3:54765281-54765282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187394154	chr3:54765287-54765288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542246322	chr3:54765293-54765294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11130431	chr3:54765332-54765333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560189576	chr3:54765382-54765383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529409122	chr3:54765401-54765402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59004379	chr3:54765409-54765410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs376184535	chr3:54765443-54765444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190653446	chr3:54765454-54765455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530669477	chr3:54765475-54765476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183418540	chr3:54765528-54765529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548458691	chr3:54765550-54765551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114551223	chr3:54765579-54765580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563597709	chr3:54765689-54765690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539628259	chr3:54765720-54765721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546846075	chr3:54765725-54765726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566417633	chr3:54765755-54765756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535555313	chr3:54765780-54765781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555024753	chr3:54765787-54765788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58295654	chr3:54765797-54765798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs537497091	chr3:54765830-54765831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558011367	chr3:54765865-54765866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577943495	chr3:54765886-54765887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540396891	chr3:54765921-54765922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149839806	chr3:54765923-54765924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574008673	chr3:54765924-54765925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564403106	chr3:54765926-54765927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553401893	chr3:54765960-54765961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552526503	chr3:54765982-54765983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189165809	chr3:54766058-54766059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54764800-54768000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:54766200-54766400	Enhancers	Fetal Lung	lung
3	chr3:54766200-54766400	Enhancers	Right Atrium	heart
4	chr3:54766200-54766400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr3:54766200-54766600	Enhancers	Ovary	ovary
6	chr3:54766200-54767200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:54766200-54767200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:54766800-54767200	Enhancers	Fetal Muscle Leg	muscle
9	chr3:54767000-54767200	Enhancers	Fetal Lung	lung
10	chr3:54767000-54767200	Enhancers	Right Atrium	heart
11	chr3:54767000-54767200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr3:54767000-54767400	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:54767200-54768400	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:54767400-54770400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:54767400-54770600	Enhancers	Brain Germinal Matrix	brain
16	chr3:54768000-54768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:54768200-54768400	Enhancers	Pancreas	Pancrea
18	chr3:54768200-54768600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:54768200-54768800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:54768200-54768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:54768200-54769000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:54768200-54769000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:54768200-54769200	Enhancers	H9 Cell Line	embryonic stem cell

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