Variant report

Variant	nsv963257
Chromosome Location	chr3:46553551-46557829
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46542684..46544753-chr3:46554640..46556935,2	K562	blood:
2	chr3:46547294..46549950-chr3:46554092..46556061,2	K562	blood:
3	chr3:46551542..46553996-chr3:46670081..46671656,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LRRC2	hsa-miR-26b-5p	chr3:46557323-46557345
2	LRRC2	hsa-miR-26b-5p	chr3:46557088-46557108
3	LRRC2	hsa-miR-26b-5p	chr3:46557329-46557322

Extended variants
information (count: 142 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551396085	chr3:46553583-46553584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559542163	chr3:46553629-46553630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200235533	chr3:46553630-46553631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150543944	chr3:46553652-46553653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533833286	chr3:46553664-46553665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548822521	chr3:46553754-46553755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182463618	chr3:46553758-46553759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538032379	chr3:46553762-46553763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369301989	chr3:46553817-46553818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571504349	chr3:46553857-46553858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532369568	chr3:46553882-46553883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556750358	chr3:46553905-46553906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188768886	chr3:46554008-46554009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538991008	chr3:46554067-46554068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547006663	chr3:46554193-46554194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553700390	chr3:46554202-46554203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567176171	chr3:46554213-46554214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138575696	chr3:46554270-46554271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57948107	chr3:46554331-46554332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146595602	chr3:46554363-46554364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74958315	chr3:46554369-46554370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373318329	chr3:46554370-46554371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572115884	chr3:46554381-46554382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398051897	chr3:46554389-46554390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377680028	chr3:46554390-46554391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543071486	chr3:46554408-46554409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370342970	chr3:46554422-46554423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561206124	chr3:46554430-46554431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544398400	chr3:46554436-46554437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149254977	chr3:46554467-46554468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146184909	chr3:46554568-46554569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34661985	chr3:46554569-46554570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562722339	chr3:46554614-46554615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373323366	chr3:46554622-46554623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533216523	chr3:46554623-46554624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116520327	chr3:46554660-46554661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560155854	chr3:46554745-46554746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1520490	chr3:46554785-46554786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548989713	chr3:46554790-46554791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567233760	chr3:46554861-46554862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371598918	chr3:46554869-46554870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193279735	chr3:46554916-46554917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549959878	chr3:46554938-46554939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571507833	chr3:46554972-46554973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538902801	chr3:46555178-46555179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554057363	chr3:46555222-46555223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139358133	chr3:46555259-46555260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144160690	chr3:46555267-46555268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369528049	chr3:46555288-46555289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374089463	chr3:46555312-46555313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
2	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
3	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
4	chr3:46544800-46556000	Weak transcription	Psoas Muscle	Psoas
5	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
6	chr3:46545600-46558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:46545600-46559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:46551800-46555800	Enhancers	K562	blood
12	chr3:46553000-46554400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:46553200-46553800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:46553200-46558000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:46553200-46558000	Weak transcription	HSMMtube	muscle
16	chr3:46553800-46554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:46554400-46555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:46555000-46567800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:46555400-46561800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:46555800-46556000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:46555800-46557600	Weak transcription	K562	blood
22	chr3:46556000-46556200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:46556000-46556200	Enhancers	Psoas Muscle	Psoas
24	chr3:46556200-46556400	Genic enhancers	Psoas Muscle	Psoas
25	chr3:46556200-46558000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
27	chr3:46556800-46560800	Weak transcription	Ovary	ovary
28	chr3:46557200-46558000	Enhancers	Hela-S3	cervix
29	chr3:46557200-46559600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:46557200-46559800	Enhancers	HMEC	breast
31	chr3:46557400-46559600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:46557400-46559600	Enhancers	HUVEC	blood vessel
33	chr3:46557600-46557800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:46557600-46558400	Enhancers	Spleen	Spleen
35	chr3:46557600-46558600	Enhancers	K562	blood
36	chr3:46557600-46559600	Strong transcription	Left Ventricle	heart
37	chr3:46557600-46559800	Enhancers	NHEK	skin
38	chr3:46557800-46558600	Enhancers	A549	lung
39	chr3:46557800-46559400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:46557800-46559400	Enhancers	NH-A	brain
41	chr3:46557800-46559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:46557800-46559600	Enhancers	NHDF-Ad	bronchial
43	chr3:46557800-46559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:46557800-46560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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