Variant report

Variant	nsv963273
Chromosome Location	chr3:98837730-98841569
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	chr3:98839672..98842383-chr3:98845089..98846835,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190650171	chr3:98837732-98837733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562679492	chr3:98837735-98837736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531444268	chr3:98837741-98837742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2966549	chr3:98837749-98837750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148355160	chr3:98837761-98837762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542245442	chr3:98837773-98837774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115349661	chr3:98837781-98837782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141541859	chr3:98837787-98837788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62276804	chr3:98837795-98837796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1524217	chr3:98837799-98837800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182938413	chr3:98837801-98837802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569529390	chr3:98837899-98837900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538083067	chr3:98837901-98837902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115279327	chr3:98837946-98837947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527979034	chr3:98837972-98837973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574851503	chr3:98837978-98837979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572692093	chr3:98837982-98837983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72932744	chr3:98837986-98837987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189127972	chr3:98837995-98837996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577267433	chr3:98838047-98838048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546208806	chr3:98838062-98838063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546992011	chr3:98838095-98838096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531620587	chr3:98838202-98838203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541677301	chr3:98838216-98838217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561896841	chr3:98838239-98838240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372565454	chr3:98838251-98838252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543273720	chr3:98838276-98838277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114480585	chr3:98838292-98838293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570204317	chr3:98838306-98838307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75507054	chr3:98838404-98838405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77464559	chr3:98838405-98838406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79705363	chr3:98838406-98838407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77668614	chr3:98838409-98838410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2966548	chr3:98838412-98838413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569484173	chr3:98838443-98838444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538496376	chr3:98838445-98838446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567123054	chr3:98838448-98838449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369150996	chr3:98838465-98838466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568590675	chr3:98838502-98838503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150450626	chr3:98838514-98838515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138245374	chr3:98838553-98838554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191922063	chr3:98838573-98838574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546255877	chr3:98838577-98838578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556488795	chr3:98838618-98838619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576283181	chr3:98838647-98838648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75036133	chr3:98838657-98838658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377415929	chr3:98838707-98838708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561742493	chr3:98838742-98838743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532086610	chr3:98838783-98838784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372776845	chr3:98838794-98838795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98828000-98837800	Weak transcription	NH-A	brain
2	chr3:98828000-98838000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98834400-98848200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:98836000-98838400	Enhancers	HSMM	muscle
5	chr3:98836200-98838400	Enhancers	HSMMtube	muscle
6	chr3:98836800-98839400	Enhancers	NHDF-Ad	bronchial
7	chr3:98837000-98838400	Enhancers	NHLF	lung
8	chr3:98837000-98838800	Enhancers	Osteobl	bone
9	chr3:98837200-98838000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:98837200-98838400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:98837200-98838800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:98837200-98839400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:98837600-98838600	Enhancers	HMEC	breast
14	chr3:98837800-98838800	Enhancers	NH-A	brain
15	chr3:98838000-98838400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:98838000-98838400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:98838000-98838600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:98838000-98838800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:98838000-98839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:98838400-98843800	Weak transcription	HSMMtube	muscle
21	chr3:98838400-98844600	Weak transcription	HSMM	muscle
22	chr3:98838400-98846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:98838800-98840200	Weak transcription	Osteobl	bone
24	chr3:98838800-98847000	Weak transcription	NH-A	brain
25	chr3:98839400-98846800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:98839400-98846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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