Variant report

Variant	nsv963510
Chromosome Location	chr3:20986272-21001315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
2	chr3:20884787..20886669-chr3:20993293..20995378,2	K562	blood:
3	chr3:20982315..20984079-chr3:20994632..20996154,2	K562	blood:
4	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:
5	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-9	chr3:20995660-20995726	NONHSAT088631

Extended variants
information (count: 80 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558519904	chr3:20995678-20995679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs573273597	chr3:20995693-20995694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540664359	chr3:20995720-20995721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115746461	chr3:20999037-20999038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556401755	chr3:20999039-20999040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577963156	chr3:20999061-20999062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545309636	chr3:20999077-20999078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554117536	chr3:20999093-20999094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73819246	chr3:20999150-20999151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542364549	chr3:20999154-20999155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140896048	chr3:20999206-20999207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560695533	chr3:20999207-20999208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573803638	chr3:20999259-20999260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149760229	chr3:20999317-20999318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565142637	chr3:20999331-20999332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188314207	chr3:20999365-20999366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562107935	chr3:20999370-20999371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73044910	chr3:20999399-20999400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528019364	chr3:20999420-20999421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201462247	chr3:20999446-20999447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180872357	chr3:20999519-20999520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547685779	chr3:20999526-20999527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373725785	chr3:20999528-20999529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530136510	chr3:20999566-20999567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185282854	chr3:20999600-20999601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572608629	chr3:20999609-20999610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570122205	chr3:20999644-20999645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567578167	chr3:20999747-20999748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190192279	chr3:20999759-20999760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs882238	chr3:20999820-20999821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs538538273	chr3:20999898-20999899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183542477	chr3:20999903-20999904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs882237	chr3:20999930-20999931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78857365	chr3:20999957-20999958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75660814	chr3:20999965-20999966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575687426	chr3:21000008-21000009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140551197	chr3:21000043-21000044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs882239	chr3:21000069-21000070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577401820	chr3:21000124-21000125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17812823	chr3:21000125-21000126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571443069	chr3:21000447-21000448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77094418	chr3:21000469-21000470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141340562	chr3:21000489-21000490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565926577	chr3:21000495-21000496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548284548	chr3:21000504-21000505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536161472	chr3:21000535-21000536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554118591	chr3:21000627-21000628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575650264	chr3:21000639-21000640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143349519	chr3:21000651-21000652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192207609	chr3:21000678-21000679	Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20999000-20999800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:20999000-21000000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:20999000-21000000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:20999000-21000000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:20999600-21000000	Enhancers	Fetal Lung	lung
6	chr3:20999600-21000200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:21000400-21000800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:21000800-21015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links