Variant report

Variant	esv3461577
Chromosome Location	chr3:21721448-21727746
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: 290 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9878770	chr3:21721454-21721455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9859099	chr3:21721486-21721487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs9859103	chr3:21721494-21721495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373080813	chr3:21721519-21721520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181606082	chr3:21721529-21721530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187210098	chr3:21721532-21721533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377249693	chr3:21721571-21721572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545867876	chr3:21721657-21721658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9859423	chr3:21721691-21721692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7632361	chr3:21721716-21721717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192457356	chr3:21721746-21721747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568266453	chr3:21721765-21721766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183843263	chr3:21721769-21721770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373742801	chr3:21721785-21721786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554203414	chr3:21721794-21721795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185183357	chr3:21721833-21721834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112613082	chr3:21721834-21721835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375637126	chr3:21721854-21721855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189653665	chr3:21721947-21721948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573870455	chr3:21721992-21721993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144141260	chr3:21722000-21722001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182578258	chr3:21722001-21722002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9883454	chr3:21722035-21722036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544745933	chr3:21722038-21722039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186899721	chr3:21722048-21722049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77981270	chr3:21722049-21722050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542236579	chr3:21722070-21722071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192923861	chr3:21722078-21722079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143830028	chr3:21722088-21722089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531945276	chr3:21722108-21722109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375633556	chr3:21722109-21722110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9863531	chr3:21722110-21722111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78968597	chr3:21722137-21722138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565384125	chr3:21722139-21722140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532627996	chr3:21722152-21722153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78664592	chr3:21722154-21722155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566179168	chr3:21722181-21722182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536617243	chr3:21722220-21722221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115071212	chr3:21722226-21722227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139042584	chr3:21722230-21722231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537799926	chr3:21722241-21722242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556314979	chr3:21722243-21722244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577724835	chr3:21722245-21722246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183825978	chr3:21722246-21722247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188366632	chr3:21722254-21722255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149474125	chr3:21722290-21722291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542200107	chr3:21722306-21722307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142568678	chr3:21722313-21722314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539341886	chr3:21722330-21722331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13324159	chr3:21722340-21722341	Enhancers Weak transcription	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:43 , 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	chr3:21718800-21723400	Weak transcription	Fetal Stomach	stomach
4	chr3:21720400-21721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21720400-21722200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
7	chr3:21720600-21724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:21720600-21725000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:21720800-21722400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21721200-21725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:21721400-21721600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:21721600-21722800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:21721600-21727600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:21722200-21722600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:21722400-21722600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:21722400-21724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:21722600-21725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:21722800-21723000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:21723400-21724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:21723400-21724000	Enhancers	NHDF-Ad	bronchial
21	chr3:21723400-21724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:21723400-21724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:21723400-21725800	Enhancers	Fetal Stomach	stomach
24	chr3:21723600-21723800	Enhancers	Fetal Kidney	kidney
25	chr3:21723600-21724600	Enhancers	HMEC	breast
26	chr3:21723800-21724400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:21723800-21725200	Weak transcription	Fetal Kidney	kidney
28	chr3:21724000-21725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:21724000-21736000	Weak transcription	NHDF-Ad	bronchial
30	chr3:21724200-21724600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:21724400-21725200	Enhancers	Left Ventricle	heart
32	chr3:21724600-21746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:21724800-21735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:21725200-21725400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:21725200-21725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:21725200-21725600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:21725200-21725600	Enhancers	Colon Smooth Muscle	Colon
38	chr3:21725200-21725800	Enhancers	Fetal Kidney	kidney
39	chr3:21725200-21725800	Enhancers	Stomach Smooth Muscle	stomach
40	chr3:21725200-21728400	Weak transcription	Left Ventricle	heart
41	chr3:21725800-21729000	Weak transcription	Fetal Stomach	stomach
42	chr3:21727000-21727200	Flanking Active TSS	Aorta	Aorta
43	chr3:21727200-21728400	Enhancers	Aorta	Aorta

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