Variant report

Variant	esv1002251
Chromosome Location	chr3:20364068-20370703
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
2	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
3	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
4	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
5	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
6	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
7	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
8	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
9	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
10	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
11	chr3:20358544..20361265-chr3:20365566..20368705,3	K562	blood:
12	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:

No data

Extended variants
information (count: 223 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140987617	chr3:20364069-20364070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77621047	chr3:20364078-20364079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79866625	chr3:20364083-20364084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114176965	chr3:20364102-20364103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9880159	chr3:20364112-20364113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185589147	chr3:20364120-20364121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563519042	chr3:20364130-20364131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7614515	chr3:20364225-20364226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552876831	chr3:20364238-20364239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571060603	chr3:20364259-20364260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535190796	chr3:20364289-20364290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547209686	chr3:20364340-20364341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565816956	chr3:20364363-20364364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535946041	chr3:20364430-20364431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11128949	chr3:20364496-20364497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558027383	chr3:20364519-20364520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189349039	chr3:20364554-20364555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537353080	chr3:20364603-20364604	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112534707	chr3:20364637-20364638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576717879	chr3:20364675-20364676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11708718	chr3:20364685-20364686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs372433893	chr3:20364707-20364708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192561258	chr3:20364750-20364751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574909834	chr3:20364758-20364759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140473214	chr3:20364824-20364825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73821619	chr3:20364859-20364860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530765858	chr3:20364874-20364875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546529671	chr3:20364889-20364890	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564813737	chr3:20364893-20364894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145584882	chr3:20364914-20364915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547246542	chr3:20364961-20364962	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568524416	chr3:20364987-20364988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530962840	chr3:20365003-20365004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs55814649	chr3:20365021-20365022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112191128	chr3:20365040-20365041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569641093	chr3:20365051-20365052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116538934	chr3:20365052-20365053	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558127704	chr3:20365062-20365063	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570439681	chr3:20365068-20365069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534587941	chr3:20365078-20365079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553149242	chr3:20365107-20365108	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138107644	chr3:20365108-20365109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs542312497	chr3:20365130-20365131	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149521142	chr3:20365150-20365151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570830952	chr3:20365184-20365185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575686856	chr3:20365202-20365203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546270082	chr3:20365203-20365204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143130179	chr3:20365204-20365205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528830833	chr3:20365206-20365207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540898178	chr3:20365224-20365225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20354000-20381800	Weak transcription	Aorta	Aorta
2	chr3:20361200-20364800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:20363400-20364400	Weak transcription	HepG2	liver
4	chr3:20363800-20364600	Enhancers	K562	blood
5	chr3:20364000-20366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:20364000-20366200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:20364400-20365600	Enhancers	HepG2	liver
8	chr3:20364600-20365000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:20364600-20365200	Flanking Active TSS	K562	blood
10	chr3:20364800-20365400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:20364800-20365600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:20364800-20368000	Enhancers	Hela-S3	cervix
13	chr3:20365000-20370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:20365200-20369600	Enhancers	K562	blood
15	chr3:20365400-20366400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:20365600-20366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:20365600-20369000	Weak transcription	HepG2	liver
18	chr3:20366000-20366400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:20366000-20366800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:20366200-20366400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:20366200-20367000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:20366200-20367000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:20366200-20367200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:20366200-20367200	Enhancers	GM12878-XiMat	blood
25	chr3:20366400-20366600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:20366800-20367200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:20366800-20367200	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:20366800-20367200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr3:20366800-20367200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr3:20366800-20367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:20367600-20368000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:20367800-20368200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:20367800-20368200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:20368000-20369000	Weak transcription	Hela-S3	cervix
35	chr3:20369000-20369200	Enhancers	Hela-S3	cervix
36	chr3:20369000-20369600	Enhancers	HepG2	liver
37	chr3:20369200-20370000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:20369600-20371200	Weak transcription	K562	blood

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