Variant report

Variant	nsv876612
Chromosome Location	chr3:21641957-21673600
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	chr3:21648769..21651752-chr3:21654371..21658356,4	K562	blood:
2	chr3:21647238..21649840-chr3:21661152..21662848,2	MCF-7	breast:
3	chr3:21648769..21651752-chr3:21654371..21658356,4	K562	blood:
4	chr3:21660057..21662035-chr3:21669557..21671867,2	MCF-7	breast:
5	chr3:21660057..21662035-chr3:21669557..21671867,2	MCF-7	breast:
6	chr3:21647238..21649840-chr3:21661152..21662848,2	MCF-7	breast:
7	chr3:21647916..21649691-chr3:21651335..21653463,2	K562	blood:
8	chr3:21647916..21649691-chr3:21651335..21653463,2	K562	blood:
9	chr3:21664828..21666953-chr3:21672242..21674310,2	K562	blood:
10	chr3:21661677..21663876-chr3:21672087..21673595,2	K562	blood:
11	chr3:21664828..21666953-chr3:21672242..21674310,2	K562	blood:
12	chr3:21661677..21663876-chr3:21672087..21673595,2	K562	blood:

No data

Extended variants
information (count: 1390 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3860582	chr3:21641957-21641958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145540977	chr3:21641985-21641986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181927267	chr3:21642001-21642002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533430560	chr3:21642092-21642093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558633099	chr3:21642111-21642112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78532221	chr3:21642124-21642125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374310446	chr3:21642175-21642176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2020429	chr3:21642180-21642181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534092563	chr3:21642207-21642208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555931639	chr3:21642220-21642221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs989069	chr3:21642237-21642238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185696583	chr3:21642260-21642261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564231779	chr3:21642266-21642267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556583727	chr3:21642292-21642293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541227597	chr3:21642307-21642308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9877990	chr3:21642348-21642349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs5847117	chr3:21642372-21642373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374579128	chr3:21642374-21642375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200838423	chr3:21642375-21642376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558047843	chr3:21642376-21642377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573099625	chr3:21642453-21642454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190451215	chr3:21642469-21642470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530363066	chr3:21642470-21642471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577712453	chr3:21642517-21642518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112359513	chr3:21642586-21642587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17009119	chr3:21642674-21642675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539916810	chr3:21642698-21642699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143584706	chr3:21642752-21642753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528971269	chr3:21642804-21642805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6775549	chr3:21642829-21642830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150200621	chr3:21642839-21642840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28520931	chr3:21642850-21642851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550971798	chr3:21642909-21642910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114984741	chr3:21642922-21642923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528037798	chr3:21642930-21642931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181980767	chr3:21642950-21642951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549386154	chr3:21642975-21642976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17009121	chr3:21643013-21643014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538323912	chr3:21643020-21643021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556664803	chr3:21643060-21643061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138145740	chr3:21643075-21643076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367760654	chr3:21643141-21643142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371942186	chr3:21643169-21643170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538992501	chr3:21643182-21643183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554137632	chr3:21643240-21643241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142689688	chr3:21643243-21643244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534134636	chr3:21643256-21643257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376088509	chr3:21643271-21643272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77253994	chr3:21643328-21643329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573807055	chr3:21643378-21643379	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21618400-21643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:21625000-21655200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:21634200-21660200	Weak transcription	K562	blood
4	chr3:21636200-21647400	Weak transcription	Aorta	Aorta
5	chr3:21641600-21642800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:21641800-21642000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:21641800-21643000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:21641800-21643400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:21642000-21642600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:21642600-21643200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:21642800-21643000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:21643000-21644200	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:21643200-21643600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:21646000-21646200	Enhancers	Fetal Lung	lung
15	chr3:21646200-21669000	Weak transcription	Fetal Lung	lung
16	chr3:21646800-21662200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:21647400-21647600	Enhancers	Aorta	Aorta
18	chr3:21647600-21647800	Genic enhancers	Aorta	Aorta
19	chr3:21647800-21650400	Weak transcription	Aorta	Aorta
20	chr3:21650400-21650600	Enhancers	Aorta	Aorta
21	chr3:21650600-21651000	Weak transcription	Aorta	Aorta
22	chr3:21651000-21651200	Enhancers	Aorta	Aorta
23	chr3:21651000-21651600	Enhancers	Fetal Stomach	stomach
24	chr3:21651200-21652200	Weak transcription	Aorta	Aorta
25	chr3:21651200-21655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:21651600-21686600	Weak transcription	Fetal Stomach	stomach
27	chr3:21652200-21653400	Strong transcription	Aorta	Aorta
28	chr3:21653400-21655400	Weak transcription	Aorta	Aorta
29	chr3:21655000-21655600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:21655000-21655600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:21655200-21655800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:21655400-21655800	Strong transcription	Aorta	Aorta
33	chr3:21655600-21656000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:21655600-21661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:21655800-21656000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:21655800-21656400	Weak transcription	Aorta	Aorta
37	chr3:21655800-21662400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:21656200-21656800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:21656400-21656800	Genic enhancers	Aorta	Aorta
40	chr3:21656800-21657000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:21656800-21659200	Weak transcription	Aorta	Aorta
42	chr3:21657200-21657600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:21658600-21659600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:21658800-21660400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:21659200-21659400	Enhancers	Fetal Kidney	kidney
46	chr3:21659200-21661600	Enhancers	Aorta	Aorta
47	chr3:21659400-21660400	Weak transcription	Fetal Kidney	kidney
48	chr3:21660400-21660600	Enhancers	Fetal Kidney	kidney
49	chr3:21660400-21661000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:21660600-21661000	Weak transcription	Fetal Kidney	kidney

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