Variant report

Variant	nsv963517
Chromosome Location	chr3:69851683-69877360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69851811..69854439-chr3:69855052..69858049,3	K562	blood:
2	chr3:69845234..69848226-chr3:69856309..69859149,2	K562	blood:
3	chr3:69846957..69848859-chr3:69852285..69853945,2	K562	blood:
4	chr3:69872958..69874845-chr3:69892360..69894536,2	K562	blood:
5	chr3:69851811..69854439-chr3:69855052..69858049,3	K562	blood:

Extended variants
information (count: 960 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528148052	chr3:69851700-69851701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541668345	chr3:69851714-69851715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142000970	chr3:69851725-69851726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559158488	chr3:69851726-69851727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533491541	chr3:69851747-69851748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114932198	chr3:69851780-69851781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34396439	chr3:69851835-69851836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79988232	chr3:69851836-69851837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9829724	chr3:69851867-69851868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529278840	chr3:69851886-69851887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548924017	chr3:69851911-69851912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565837810	chr3:69851916-69851917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11918650	chr3:69851919-69851920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557545403	chr3:69851924-69851925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571401372	chr3:69851925-69851926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536971421	chr3:69851928-69851929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557215248	chr3:69852015-69852016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573815649	chr3:69852028-69852029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138721459	chr3:69852030-69852031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552978932	chr3:69852099-69852100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572992212	chr3:69852110-69852111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149362232	chr3:69852141-69852142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183392132	chr3:69852191-69852192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113750869	chr3:69852208-69852209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80121846	chr3:69852215-69852216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76217345	chr3:69852217-69852218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564018112	chr3:69852227-69852228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529514022	chr3:69852255-69852256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548985288	chr3:69852270-69852271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559285989	chr3:69852305-69852306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139627225	chr3:69852340-69852341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111448096	chr3:69852433-69852434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141713001	chr3:69852434-69852435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537261998	chr3:69852451-69852452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146247188	chr3:69852469-69852470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567575273	chr3:69852485-69852486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112843029	chr3:69852490-69852491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141906792	chr3:69852503-69852504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553038624	chr3:69852509-69852510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572854579	chr3:69852558-69852559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538785985	chr3:69852561-69852562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112318916	chr3:69852746-69852747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575207850	chr3:69852772-69852773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368467766	chr3:69852797-69852798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113538015	chr3:69852801-69852802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3097604	chr3:69852825-69852826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186202797	chr3:69852906-69852907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374155037	chr3:69852915-69852916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374220481	chr3:69852937-69852938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142666630	chr3:69852952-69852953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Malignant glioma	16001072	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69841200-69856200	Weak transcription	Ovary	ovary
2	chr3:69841200-69857600	Weak transcription	Right Atrium	heart
3	chr3:69841400-69853200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:69841400-69855800	Weak transcription	HSMM	muscle
5	chr3:69841600-69853400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:69841800-69855400	Weak transcription	NHLF	lung
7	chr3:69842200-69853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:69843400-69859800	Weak transcription	Left Ventricle	heart
9	chr3:69844000-69856000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:69847400-69860600	Weak transcription	Aorta	Aorta
11	chr3:69848000-69857600	Weak transcription	Psoas Muscle	Psoas
12	chr3:69848800-69853000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:69848800-69853800	Weak transcription	K562	blood
14	chr3:69848800-69858600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:69849200-69852400	Weak transcription	HUVEC	blood vessel
16	chr3:69849800-69856200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:69849800-69869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:69850800-69855600	Weak transcription	Fetal Heart	heart
19	chr3:69851000-69852400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:69851200-69852400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:69851200-69852600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:69851400-69851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:69851800-69855000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:69852000-69854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:69852400-69852600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:69852400-69853400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:69852400-69854000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:69852400-69854400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:69852400-69855800	Enhancers	HUVEC	blood vessel
30	chr3:69852600-69853200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:69852600-69853400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:69852800-69853200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:69852800-69854000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:69852800-69857800	Weak transcription	Lung	lung
35	chr3:69853000-69853400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:69853000-69853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:69853200-69853400	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:69853200-69854000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:69853200-69854000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:69853200-69854800	Enhancers	Colon Smooth Muscle	Colon
41	chr3:69853200-69855600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:69853400-69854000	Enhancers	Rectal Smooth Muscle	rectum
43	chr3:69853400-69854000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:69853400-69860600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:69853600-69855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:69853800-69854200	Enhancers	K562	blood
47	chr3:69854000-69854200	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:69854000-69856000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:69854000-69856200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:69854000-69856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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