Variant report

Variant	nsv213663
Chromosome Location	chr2:133043048-133050957
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	chr2:133042500..133043310-chr2:162134708..162135564,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30BL-1	chr2:133043368-133043465	XLOC_002329
2	lnc-ANKRD30BL-1	chr2:133046475-133046638	XLOC_002329

Extended variants
information (count: 708 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58026211	chr2:133043054-133043055	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75546229	chr2:133043055-133043056	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564610211	chr2:133043062-133043063	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78564061	chr2:133043064-133043065	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74682252	chr2:133043076-133043077	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62163820	chr2:133043080-133043081	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528561715	chr2:133043106-133043107	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11690876	chr2:133043109-133043110	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184794421	chr2:133043112-133043113	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62163821	chr2:133043152-133043153	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77808867	chr2:133043153-133043154	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547001378	chr2:133043157-133043158	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561961636	chr2:133043167-133043168	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62163822	chr2:133043179-133043180	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111679946	chr2:133043180-133043181	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529245271	chr2:133043185-133043186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74568279	chr2:133043189-133043190	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62163823	chr2:133043195-133043196	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111539059	chr2:133043197-133043198	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548189738	chr2:133043204-133043205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111890110	chr2:133043206-133043207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569611181	chr2:133043208-133043209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113041372	chr2:133043210-133043211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74920886	chr2:133043212-133043213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551935039	chr2:133043216-133043217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202068640	chr2:133043227-133043228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370816030	chr2:133043231-133043232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111300492	chr2:133043237-133043238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76960122	chr2:133043269-133043270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113315314	chr2:133043285-133043286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534440293	chr2:133043296-133043297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140903883	chr2:133043297-133043298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75112876	chr2:133043310-133043311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77451938	chr2:133043311-133043312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552996203	chr2:133043327-133043328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34379878	chr2:133043337-133043338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201889083	chr2:133043354-133043355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80218999	chr2:133043368-133043369	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs72987851	chr2:133043374-133043375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs372002256	chr2:133043375-133043376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs112529357	chr2:133043385-133043386	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs147512326	chr2:133043392-133043393	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35043213	chr2:133043404-133043405	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs546456343	chr2:133043409-133043410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs112704630	chr2:133043410-133043411	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs369478623	chr2:133043420-133043421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs73955413	chr2:133043435-133043436	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs73955414	chr2:133043436-133043437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs529315206	chr2:133043437-133043438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550548927	chr2:133043439-133043440	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133039200-133043600	Weak transcription	Gastric	stomach
2	chr2:133039200-133044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:133039200-133044000	Weak transcription	Right Atrium	heart
4	chr2:133039200-133044200	Weak transcription	Stomach Mucosa	stomach
5	chr2:133039200-133044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:133039200-133044400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
8	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
9	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
10	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:133043800-133045200	ZNF genes & repeats	Esophagus	oesophagus
12	chr2:133043800-133045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:133043800-133045600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr2:133043800-133045600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr2:133043800-133045800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr2:133044000-133044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:133044000-133044800	ZNF genes & repeats	Ovary	ovary
18	chr2:133044000-133045400	ZNF genes & repeats	Right Atrium	heart
19	chr2:133044000-133045600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:133044000-133045600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr2:133044000-133045600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr2:133044000-133045600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr2:133044000-133045600	ZNF genes & repeats	Spleen	Spleen
24	chr2:133044000-133045800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:133044000-133045800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr2:133044200-133044400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr2:133044200-133044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:133044200-133045200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr2:133044200-133045400	ZNF genes & repeats	Placenta	Placenta
30	chr2:133044200-133045400	ZNF genes & repeats	Lung	lung
31	chr2:133044200-133045600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:133044200-133045600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr2:133044200-133045600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr2:133044200-133045600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr2:133044200-133045600	Active TSS	Fetal Heart	heart
38	chr2:133044200-133045600	ZNF genes & repeats	Pancreas	Pancrea
39	chr2:133044200-133045600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
40	chr2:133044200-133045600	ZNF genes & repeats	Thymus	Thymus
41	chr2:133044200-133045800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr2:133044200-133045800	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr2:133044200-133045800	ZNF genes & repeats	Fetal Brain Male	brain
44	chr2:133044200-133045800	ZNF genes & repeats	Stomach Mucosa	stomach
45	chr2:133044400-133044600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:133044400-133044600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr2:133044400-133044600	Bivalent Enhancer	K562	blood
48	chr2:133044400-133044800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:133044400-133044800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr2:133044400-133044800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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