Variant report

Variant	nsv589910
Chromosome Location	chr3:21723978-21725325
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	chr3:21721634..21724337-chr3:21728946..21730736,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6784271	chr3:21723978-21723979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548377747	chr3:21723989-21723990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569631977	chr3:21724010-21724011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537199498	chr3:21724026-21724027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558261133	chr3:21724061-21724062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112877610	chr3:21724066-21724067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570424562	chr3:21724086-21724087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534606455	chr3:21724147-21724148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187149555	chr3:21724156-21724157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78074057	chr3:21724159-21724160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142470719	chr3:21724232-21724233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535657237	chr3:21724264-21724265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116813062	chr3:21724278-21724279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540586018	chr3:21724291-21724292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575645771	chr3:21724331-21724332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145750508	chr3:21724359-21724360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141682154	chr3:21724362-21724363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113669703	chr3:21724420-21724421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557323133	chr3:21724458-21724459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189892397	chr3:21724470-21724471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548082376	chr3:21724473-21724474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147086188	chr3:21724478-21724479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568018879	chr3:21724505-21724506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552256483	chr3:21724559-21724560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570585466	chr3:21724611-21724612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534566101	chr3:21724624-21724625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546652667	chr3:21724642-21724643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182523880	chr3:21724674-21724675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536190453	chr3:21724716-21724717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138509369	chr3:21724736-21724737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575752763	chr3:21724749-21724750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539646475	chr3:21724752-21724753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542702925	chr3:21724764-21724765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186121884	chr3:21724825-21724826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573015283	chr3:21724868-21724869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376115686	chr3:21724869-21724870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189794137	chr3:21724876-21724877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144051567	chr3:21724877-21724878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143399231	chr3:21724882-21724883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574637298	chr3:21724893-21724894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182050036	chr3:21724934-21724935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563441686	chr3:21724935-21724936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530703672	chr3:21724937-21724938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552417832	chr3:21724956-21724957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147972755	chr3:21724964-21724965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564156152	chr3:21724972-21724973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141642611	chr3:21725046-21725047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150518123	chr3:21725057-21725058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546613836	chr3:21725106-21725107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568086469	chr3:21725110-21725111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
2	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
3	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
4	chr3:21720600-21724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:21720600-21725000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:21721200-21725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:21721600-21727600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:21722400-21724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:21722600-21725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:21723400-21724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:21723400-21724000	Enhancers	NHDF-Ad	bronchial
12	chr3:21723400-21724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:21723400-21724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:21723400-21725800	Enhancers	Fetal Stomach	stomach
15	chr3:21723600-21724600	Enhancers	HMEC	breast
16	chr3:21723800-21724400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:21723800-21725200	Weak transcription	Fetal Kidney	kidney
18	chr3:21724000-21725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:21724000-21736000	Weak transcription	NHDF-Ad	bronchial
20	chr3:21724200-21724600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:21724400-21725200	Enhancers	Left Ventricle	heart
22	chr3:21724600-21746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:21724800-21735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:21725200-21725400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:21725200-21725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:21725200-21725600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:21725200-21725600	Enhancers	Colon Smooth Muscle	Colon
28	chr3:21725200-21725800	Enhancers	Fetal Kidney	kidney
29	chr3:21725200-21725800	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:21725200-21728400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links