Variant report

Variant	nsv998445
Chromosome Location	chr3:53008146-53023199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
2	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
3	chr3:53004365..53006043-chr3:53009863..53012220,2	MCF-7	breast:
4	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:
5	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:

Extended variants
information (count: 549 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530364357	chr3:53008149-53008150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542517966	chr3:53008233-53008234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144767506	chr3:53008291-53008292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541885471	chr3:53008335-53008336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114183875	chr3:53008388-53008389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138721741	chr3:53008408-53008409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6795138	chr3:53008431-53008432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141751143	chr3:53008520-53008521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146260954	chr3:53008545-53008546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573828996	chr3:53008583-53008584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542737353	chr3:53008603-53008604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562530964	chr3:53008622-53008623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148064286	chr3:53008678-53008679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141613813	chr3:53008682-53008683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6782719	chr3:53008692-53008693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565049591	chr3:53008700-53008701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182901088	chr3:53008707-53008708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547500790	chr3:53008738-53008739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566935411	chr3:53008744-53008745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35384050	chr3:53008769-53008770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs79112731	chr3:53008791-53008792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187536306	chr3:53008797-53008798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377238032	chr3:53008848-53008849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35042170	chr3:53008849-53008850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10646648	chr3:53008850-53008851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78644580	chr3:53008851-53008852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79816380	chr3:53008852-53008853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60325036	chr3:53008873-53008874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76203476	chr3:53008875-53008876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150517038	chr3:53008882-53008883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192366794	chr3:53008895-53008896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559071851	chr3:53008944-53008945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566275983	chr3:53008979-53008980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565616671	chr3:53009022-53009023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373897203	chr3:53009039-53009040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73087044	chr3:53009043-53009044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs139505819	chr3:53009246-53009247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573691180	chr3:53009294-53009295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567913853	chr3:53009315-53009316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185880616	chr3:53009330-53009331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149702936	chr3:53009361-53009362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72961752	chr3:53009367-53009368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558428865	chr3:53009377-53009378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544909595	chr3:53009394-53009395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373090396	chr3:53009396-53009397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565070759	chr3:53009436-53009437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527633696	chr3:53009476-53009477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541308455	chr3:53009522-53009523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189145362	chr3:53009538-53009539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147297656	chr3:53009541-53009542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
6	chr3:52965600-53008200	Weak transcription	GM12878-XiMat	blood
7	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:52986400-53012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:52987600-53009400	Weak transcription	Placenta	Placenta
11	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
12	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
13	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
16	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:52997200-53008200	Weak transcription	A549	lung
19	chr3:52999000-53008200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:53001800-53008800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:53002400-53013400	Weak transcription	Liver	Liver
24	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:53003400-53017000	Weak transcription	Dnd41	blood
26	chr3:53004000-53012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:53004200-53014800	Weak transcription	Fetal Intestine Small	intestine
28	chr3:53006000-53008200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr3:53006200-53015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:53006400-53012000	Weak transcription	Fetal Heart	heart
31	chr3:53007800-53008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:53007800-53008400	Enhancers	Hela-S3	cervix
33	chr3:53007800-53008600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:53007800-53008600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:53008000-53008200	Enhancers	Colon Smooth Muscle	Colon
36	chr3:53008000-53008200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr3:53008000-53008200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:53008000-53008400	Enhancers	HUVEC	blood vessel
39	chr3:53008000-53008400	Enhancers	Osteobl	bone
40	chr3:53008000-53008600	Enhancers	HepG2	liver
41	chr3:53008200-53008400	Enhancers	A549	lung
42	chr3:53008200-53008600	Enhancers	NHLF	lung
43	chr3:53008200-53008800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:53008200-53009400	Enhancers	GM12878-XiMat	blood
45	chr3:53008200-53015800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:53008400-53008800	Weak transcription	A549	lung
47	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
48	chr3:53008600-53009000	Weak transcription	HepG2	liver
49	chr3:53008600-53009400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:53008600-53016000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links