Variant report

Variant	nsv590426
Chromosome Location	chr3:61356250-61405827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61367227..61368164-chr3:180989945..180990474,2	MCF-7	breast:
2	chr3:59560756..59561799-chr3:61367133..61368119,4	K562	blood:
3	chr3:61404334..61405865-chr3:61408872..61411112,2	MCF-7	breast:
4	chr3:61402150..61405123-chr3:61405976..61408956,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRG-4	chr3:61395234-61395387	NONHSAT090168
2	lnc-PTPRG-4	chr3:61398784-61398853	NONHSAT090168

Extended variants
information (count: 461 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13061149	chr3:61356250-61356251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376276654	chr3:61356290-61356291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140684745	chr3:61356370-61356371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565683557	chr3:61356389-61356390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539401122	chr3:61356422-61356423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186552395	chr3:61356439-61356440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144501084	chr3:61356479-61356480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576712636	chr3:61356553-61356554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34569215	chr3:61356661-61356662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537729595	chr3:61356667-61356668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571605372	chr3:61356669-61356670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151116681	chr3:61356680-61356681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574147104	chr3:61356682-61356683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538800926	chr3:61356692-61356693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541128357	chr3:61356708-61356709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553006815	chr3:61356888-61356889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577704856	chr3:61356889-61356890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371112040	chr3:61356913-61356914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562136842	chr3:61356935-61356936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111267432	chr3:61356968-61356969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563677550	chr3:61357025-61357026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531542093	chr3:61357076-61357077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112754775	chr3:61357134-61357135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543667347	chr3:61357168-61357169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116408998	chr3:61357207-61357208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529053879	chr3:61357208-61357209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77010122	chr3:61357239-61357240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565822313	chr3:61357255-61357256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533058889	chr3:61357281-61357282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13067383	chr3:61357417-61357418	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs77536447	chr3:61357443-61357444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113283562	chr3:61357454-61357455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140054027	chr3:61357479-61357480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567770156	chr3:61357484-61357485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62269918	chr3:61357492-61357493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553145884	chr3:61357549-61357550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577742951	chr3:61357551-61357552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376127179	chr3:61357631-61357632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557092381	chr3:61357645-61357646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11710151	chr3:61357678-61357679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373341961	chr3:61357736-61357737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190018864	chr3:61357744-61357745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561977539	chr3:61357785-61357786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574090246	chr3:61357794-61357795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576634611	chr3:61357798-61357799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527678619	chr3:61357803-61357804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554317168	chr3:61357837-61357838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58540051	chr3:61357840-61357841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529194663	chr3:61357868-61357869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112598923	chr3:61357889-61357890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	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
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61345600-61356800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:61350200-61359400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:61356400-61357000	Enhancers	Fetal Kidney	kidney
4	chr3:61356800-61357000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:61357000-61358400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:61358400-61358600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:61363600-61364200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:61363600-61364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:61364600-61364800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:61367400-61367600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:61379400-61379800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:61390200-61390600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:61395400-61395600	Enhancers	Liver	Liver
14	chr3:61395600-61396600	Weak transcription	Liver	Liver
15	chr3:61396600-61397800	Enhancers	Liver	Liver
16	chr3:61399800-61401000	Enhancers	GM12878-XiMat	blood
17	chr3:61400600-61401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:61400600-61401200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:61400800-61401000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:61402800-61403800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:61403000-61403200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:61403000-61403800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:61403000-61403800	Enhancers	Adipose Nuclei	Adipose
24	chr3:61404400-61405200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:61404800-61405200	Enhancers	Fetal Brain Male	brain
26	chr3:61405200-61408800	Weak transcription	Fetal Brain Male	brain
27	chr3:61405800-61406000	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links