Variant report

Variant	esv3425095
Chromosome Location	chr3:50638568-50638833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50382035..50386464-chr3:50636911..50639420,4	MCF-7	breast:
2	chr3:50638594..50639295-chr3:50648738..50649367,2	MCF-7	breast:
3	chr3:50626963..50632967-chr3:50633102..50640850,17	K562	blood:
4	chr3:50596509..50599002-chr3:50637858..50640256,2	MCF-7	breast:
5	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
6	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
7	chr3:50373496..50376047-chr3:50637819..50639325,2	K562	blood:
8	chr3:50373496..50376492-chr3:50637687..50640592,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000004838	chromatin interactions
ENSG00000114388	chromatin interactions
ENSG00000088543	chromatin interactions
ENSG00000114735	chromatin interactions
ENSG00000114738	chromatin interactions
ENSG00000114737	chromatin interactions
ENSG00000068028	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540252846	chr3:50638576-50638577	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs563308934	chr3:50638577-50638578	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs373486405	chr3:50638581-50638582	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs189928	chr3:50638598-50638599	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs561811433	chr3:50638643-50638644	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs142845904	chr3:50638656-50638657	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs530498760	chr3:50638689-50638690	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs544052720	chr3:50638704-50638705	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs146090541	chr3:50638705-50638706	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs538247008	chr3:50638711-50638712	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs561594873	chr3:50638715-50638716	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs528688228	chr3:50638746-50638747	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs140097366	chr3:50638747-50638748	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs551606799	chr3:50638781-50638782	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs201195	chr3:50638782-50638783	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571744514	chr3:50638801-50638802	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs143356980	chr3:50638812-50638813	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	22122801	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50635600-50638800	Enhancers	Colon Smooth Muscle	Colon
2	chr3:50635800-50638600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:50635800-50640400	Enhancers	Placenta	Placenta
4	chr3:50636000-50638600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr3:50636000-50638800	Enhancers	Right Ventricle	heart
6	chr3:50636000-50641200	Enhancers	Lung	lung
7	chr3:50636000-50641400	Enhancers	Fetal Thymus	thymus
8	chr3:50636000-50641600	Enhancers	Esophagus	oesophagus
9	chr3:50636200-50638800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:50636200-50639000	Enhancers	Liver	Liver
11	chr3:50636200-50640600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:50636400-50638800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:50636400-50640600	Enhancers	Right Atrium	heart
14	chr3:50636400-50641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:50636400-50641600	Enhancers	Pancreas	Pancrea
16	chr3:50636600-50638800	Enhancers	Fetal Intestine Large	intestine
17	chr3:50636600-50638800	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:50636600-50639000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:50636600-50639200	Enhancers	Fetal Muscle Leg	muscle
20	chr3:50636600-50639600	Enhancers	Spleen	Spleen
21	chr3:50636600-50640400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:50636600-50640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:50636600-50643600	Enhancers	Left Ventricle	heart
24	chr3:50636800-50640600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:50636800-50641600	Enhancers	Gastric	stomach
26	chr3:50636800-50646000	Genic enhancers	Fetal Intestine Small	intestine
27	chr3:50637000-50638600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:50637000-50638600	Enhancers	Primary T cells from cord blood	blood
29	chr3:50637000-50638800	Enhancers	HSMM	muscle
30	chr3:50637000-50639000	Enhancers	Fetal Lung	lung
31	chr3:50637000-50639800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:50637000-50640400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:50637000-50640400	Enhancers	Brain Angular Gyrus	brain
34	chr3:50637000-50640800	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:50637200-50638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:50637200-50638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:50637200-50638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:50637200-50638800	Enhancers	Duodenum Mucosa	Duodenum
39	chr3:50637200-50638800	Enhancers	A549	lung
40	chr3:50637200-50638800	Enhancers	NHDF-Ad	bronchial
41	chr3:50637200-50639000	Enhancers	Adipose Nuclei	Adipose
42	chr3:50637200-50639000	Enhancers	NHLF	lung
43	chr3:50637200-50640200	Enhancers	Primary B cells from peripheral blood	blood
44	chr3:50637200-50640400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:50637400-50638800	Enhancers	Stomach Mucosa	stomach
46	chr3:50637400-50638800	Enhancers	Osteobl	bone
47	chr3:50637400-50639000	Enhancers	Fetal Kidney	kidney
48	chr3:50637400-50639800	Flanking Active TSS	K562	blood
49	chr3:50637400-50640000	Enhancers	Brain Substantia Nigra	brain
50	chr3:50637400-50640200	Enhancers	Psoas Muscle	Psoas

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