Variant report

Variant	nsv590234
Chromosome Location	chr3:47985001-47985660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141686854	chr3:47985005-47985006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139128804	chr3:47985035-47985036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539506653	chr3:47985036-47985037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558364682	chr3:47985048-47985049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189784758	chr3:47985056-47985057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72909702	chr3:47985088-47985089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537595563	chr3:47985109-47985110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75625285	chr3:47985116-47985117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548499180	chr3:47985162-47985163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372670479	chr3:47985163-47985164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577630316	chr3:47985181-47985182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538710617	chr3:47985257-47985258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538126566	chr3:47985277-47985278	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571702055	chr3:47985338-47985339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7653368	chr3:47985361-47985362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs377644289	chr3:47985429-47985430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568239299	chr3:47985431-47985432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561209092	chr3:47985497-47985498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537289014	chr3:47985500-47985501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576233818	chr3:47985570-47985571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543628919	chr3:47985586-47985587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377370092	chr3:47985653-47985654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1971869	chr3:47985654-47985655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1971868	chr3:47985656-47985657	Weak transcription Enhancers	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
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47957800-47991000	Weak transcription	Fetal Kidney	kidney
2	chr3:47958600-47989600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:47962800-47988600	Weak transcription	Esophagus	oesophagus
4	chr3:47963000-47991200	Weak transcription	Gastric	stomach
5	chr3:47966200-47991200	Weak transcription	A549	lung
6	chr3:47968600-48012600	Weak transcription	Primary B cells from cord blood	blood
7	chr3:47968800-48003000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:47969000-48003000	Weak transcription	Thymus	Thymus
9	chr3:47969200-48002600	Weak transcription	Aorta	Aorta
10	chr3:47969200-48003200	Weak transcription	Lung	lung
11	chr3:47969800-47991000	Weak transcription	NHDF-Ad	bronchial
12	chr3:47969800-47991200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:47969800-47991200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:47969800-47991600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:47969800-47997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:47969800-48000600	Weak transcription	Fetal Stomach	stomach
17	chr3:47969800-48002600	Weak transcription	HMEC	breast
18	chr3:47969800-48003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:47969800-48003000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:47969800-48003000	Weak transcription	Hela-S3	cervix
21	chr3:47969800-48003200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:47969800-48003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:47969800-48003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:47969800-48004000	Weak transcription	NHLF	lung
25	chr3:47970000-47985200	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:47970000-48003000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:47970200-47994200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:47970200-47996000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:47970200-48003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:47970200-48003000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:47970200-48003000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:47970200-48003200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:47970200-48003200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:47970200-48013000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:47970200-48016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:47971000-47988200	Weak transcription	NHEK	skin
37	chr3:47971000-47990600	Weak transcription	HepG2	liver
38	chr3:47971000-47991200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:47971600-47988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:47974400-47991600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:47974400-47997000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:47974400-48003000	Weak transcription	HSMMtube	muscle
43	chr3:47974400-48003200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:47974400-48012600	Weak transcription	Osteobl	bone
45	chr3:47974600-47996200	Weak transcription	HSMM	muscle
46	chr3:47976800-47992200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:47980600-47991200	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:47980600-47991200	Weak transcription	Pancreas	Pancrea
49	chr3:47980600-47997800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:47980600-48002600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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