Variant report

Variant	esv3379506
Chromosome Location	chr3:21335998-21338596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544841624	chr3:21336050-21336051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369939466	chr3:21336101-21336102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36120332	chr3:21336127-21336128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559923009	chr3:21336157-21336158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527433960	chr3:21336160-21336161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539394431	chr3:21336161-21336162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80054373	chr3:21336170-21336171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150502047	chr3:21336185-21336186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543104663	chr3:21336226-21336227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566551577	chr3:21336227-21336228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140312604	chr3:21336262-21336263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144234622	chr3:21336276-21336277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535549773	chr3:21336290-21336291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571361834	chr3:21336332-21336333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555971442	chr3:21336345-21336346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532118835	chr3:21336378-21336379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547469458	chr3:21336382-21336383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566299201	chr3:21336424-21336425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575928629	chr3:21336437-21336438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538475450	chr3:21336466-21336467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183279529	chr3:21336470-21336471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555335032	chr3:21336501-21336502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570230505	chr3:21336506-21336507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147372062	chr3:21336514-21336515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139605839	chr3:21336538-21336539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577126303	chr3:21336582-21336583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534793952	chr3:21336590-21336591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553018833	chr3:21336600-21336601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571947306	chr3:21336643-21336644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115682016	chr3:21336657-21336658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374353195	chr3:21336660-21336661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578221786	chr3:21336675-21336676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540613512	chr3:21336676-21336677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576250372	chr3:21336682-21336683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12497407	chr3:21336712-21336713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564730575	chr3:21336729-21336730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532116770	chr3:21336742-21336743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547530413	chr3:21336751-21336752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17008396	chr3:21336755-21336756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530345783	chr3:21336798-21336799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548796872	chr3:21336805-21336806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542733712	chr3:21336827-21336828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570366674	chr3:21336829-21336830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186840305	chr3:21336859-21336860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59999836	chr3:21336865-21336866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374843747	chr3:21336866-21336867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71618847	chr3:21336881-21336882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397732091	chr3:21336883-21336884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377024308	chr3:21336884-21336885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552787779	chr3:21336930-21336931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21334200-21336800	Enhancers	NHEK	skin
2	chr3:21334200-21337000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:21335200-21336200	Weak transcription	HMEC	breast
4	chr3:21335400-21336800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:21335600-21336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:21335600-21337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:21335800-21336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:21335800-21337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:21335800-21337000	Enhancers	NHDF-Ad	bronchial
10	chr3:21336000-21336600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:21336000-21336800	Enhancers	NH-A	brain
12	chr3:21336000-21337000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:21336200-21336800	Enhancers	HMEC	breast
14	chr3:21336400-21342200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:21336800-21337000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:21337000-21338400	Weak transcription	Esophagus	oesophagus
17	chr3:21338400-21338600	ZNF genes & repeats	Esophagus	oesophagus

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