Variant report

Variant	esv3397387
Chromosome Location	chr3:43346911-43347188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43346468..43349157-chr3:43351424..43353068,2	K562	blood:
2	chr3:43328259..43329793-chr3:43345734..43348023,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35255577	chr3:43346973-43346974	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76838897	chr3:43346991-43346992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76968761	chr3:43347060-43347061	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141007843	chr3:43347074-43347075	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543102521	chr3:43347089-43347090	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9857781	chr3:43347116-43347117	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199948440	chr3:43347136-43347137	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200902870	chr3:43347137-43347138	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543379874	chr3:43347143-43347144	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553151091	chr3:43347162-43347163	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572904911	chr3:43347167-43347168	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
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
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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
2	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:43335400-43351000	Weak transcription	Fetal Stomach	stomach
6	chr3:43337000-43354400	Weak transcription	A549	lung
7	chr3:43337400-43358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:43339600-43356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:43340000-43358600	Weak transcription	Colonic Mucosa	Colon
10	chr3:43340200-43347000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:43340200-43359000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:43340200-43361200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:43340400-43358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:43340400-43358200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:43340600-43349200	Weak transcription	Brain Substantia Nigra	brain
16	chr3:43340600-43349800	Weak transcription	Aorta	Aorta
17	chr3:43340600-43352400	Weak transcription	Right Ventricle	heart
18	chr3:43340600-43352400	Weak transcription	Small Intestine	intestine
19	chr3:43340600-43358600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:43340600-43358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:43340600-43358800	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:43340600-43359200	Weak transcription	Gastric	stomach
23	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
24	chr3:43341000-43359000	Weak transcription	Spleen	Spleen
25	chr3:43341200-43348200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:43342000-43359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:43342200-43354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:43342600-43355800	Strong transcription	HUVEC	blood vessel
29	chr3:43343200-43356400	Weak transcription	Fetal Intestine Small	intestine
30	chr3:43343400-43348000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:43343800-43357200	Strong transcription	Fetal Thymus	thymus
32	chr3:43344000-43347400	Strong transcription	Fetal Intestine Large	intestine
33	chr3:43344000-43355400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:43344200-43358200	Weak transcription	Psoas Muscle	Psoas
35	chr3:43344400-43347800	Strong transcription	Dnd41	blood
36	chr3:43344400-43348400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:43344600-43347000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:43344600-43347000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:43344600-43347000	Strong transcription	Placenta	Placenta
40	chr3:43344600-43347200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:43344600-43347400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:43344600-43347600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:43344600-43347600	Genic enhancers	Primary T cells from cord blood	blood
44	chr3:43344600-43347600	Strong transcription	NHDF-Ad	bronchial
45	chr3:43344600-43348000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr3:43344600-43348400	Strong transcription	Hela-S3	cervix
47	chr3:43344600-43348800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:43344600-43349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:43344600-43351600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:43344600-43359400	Strong transcription	Primary monocytes fromperipheralblood	blood

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