Variant report

Variant	esv3356519
Chromosome Location	chr3:49642123-49644746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563458996	chr3:49642216-49642217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138644898	chr3:49642221-49642222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142925108	chr3:49642243-49642244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368566541	chr3:49642330-49642331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545796809	chr3:49642346-49642347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112996925	chr3:49642374-49642375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372834661	chr3:49642384-49642385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13064576	chr3:49642430-49642431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs562163855	chr3:49642431-49642432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193126279	chr3:49642587-49642588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547170808	chr3:49642677-49642678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562173717	chr3:49642695-49642696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528969766	chr3:49642697-49642698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185780833	chr3:49642701-49642702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113586895	chr3:49642731-49642732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189338381	chr3:49642848-49642849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181634836	chr3:49642880-49642881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372465586	chr3:49642902-49642903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368926536	chr3:49642947-49642948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373443855	chr3:49642973-49642974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377047617	chr3:49642989-49642990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371409855	chr3:49642990-49642991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374339174	chr3:49642997-49642998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554224619	chr3:49643013-49643014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184367502	chr3:49643076-49643077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376391056	chr3:49643092-49643093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188860614	chr3:49643105-49643106	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs573095473	chr3:49643122-49643123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568975310	chr3:49643124-49643125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369849874	chr3:49643174-49643175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374010487	chr3:49643304-49643305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181288091	chr3:49643331-49643332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377262115	chr3:49643340-49643341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370684907	chr3:49643354-49643355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377640307	chr3:49643358-49643359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200652144	chr3:49643363-49643364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371437522	chr3:49643532-49643533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539397037	chr3:49643537-49643538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551434686	chr3:49643551-49643552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74221092	chr3:49643559-49643560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376037321	chr3:49643566-49643567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56193137	chr3:49643568-49643569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61571864	chr3:49643574-49643575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377069561	chr3:49643613-49643614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55917582	chr3:49643620-49643621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56321226	chr3:49643621-49643622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370104978	chr3:49643645-49643646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56014462	chr3:49643646-49643647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56043854	chr3:49643651-49643652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6779507	chr3:49643652-49643653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49637800-49653600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49638000-49644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:49638000-49647200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:49639200-49643800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:49639800-49644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:49639800-49644000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:49639800-49644600	Weak transcription	NHDF-Ad	bronchial
8	chr3:49640400-49646800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:49640600-49644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:49640600-49644200	Weak transcription	Hela-S3	cervix
11	chr3:49640600-49644800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:49640600-49647000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:49640800-49646800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:49641000-49643800	Weak transcription	Spleen	Spleen
15	chr3:49641000-49644000	Weak transcription	Pancreas	Pancrea
16	chr3:49641000-49644600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:49641200-49644400	Weak transcription	HMEC	breast
18	chr3:49641200-49644400	Weak transcription	NHEK	skin
19	chr3:49641200-49644600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:49641200-49653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:49643800-49644200	Enhancers	Brain Anterior Caudate	brain
22	chr3:49643800-49644600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:49643800-49644800	Enhancers	Spleen	Spleen
24	chr3:49643800-49645400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:49643800-49645400	Enhancers	Stomach Mucosa	stomach
26	chr3:49643800-49645800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:49644000-49644200	Enhancers	Pancreas	Pancrea
28	chr3:49644000-49644400	Enhancers	Lung	lung
29	chr3:49644000-49645200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:49644000-49645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:49644000-49645400	Enhancers	Brain Hippocampus Middle	brain
32	chr3:49644000-49645400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:49644000-49645400	Enhancers	Esophagus	oesophagus
34	chr3:49644200-49644600	Weak transcription	Pancreas	Pancrea
35	chr3:49644200-49645600	Enhancers	Hela-S3	cervix
36	chr3:49644200-49646800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:49644400-49644600	Enhancers	Fetal Muscle Trunk	muscle
38	chr3:49644400-49644600	Weak transcription	Lung	lung
39	chr3:49644400-49644800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:49644400-49645000	Enhancers	Adipose Nuclei	Adipose
41	chr3:49644400-49645200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:49644400-49645400	Enhancers	Right Ventricle	heart
43	chr3:49644400-49645400	Enhancers	HMEC	breast
44	chr3:49644400-49645400	Enhancers	NHEK	skin
45	chr3:49644600-49644800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:49644600-49645000	Enhancers	Left Ventricle	heart
47	chr3:49644600-49645000	Enhancers	Lung	lung
48	chr3:49644600-49645000	Enhancers	Pancreas	Pancrea
49	chr3:49644600-49645000	Enhancers	Right Atrium	heart
50	chr3:49644600-49645200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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