Variant report

Variant	esv3396673
Chromosome Location	chr2:133041278-133045532
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

Extended variants
information (count: 490 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:490 , 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	rs62163812	chr2:133041307-133041308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560368404	chr2:133041323-133041324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572121702	chr2:133041340-133041341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62163813	chr2:133041342-133041343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542725736	chr2:133041349-133041350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560784190	chr2:133041436-133041437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374537677	chr2:133041441-133041442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4366956	chr2:133041457-133041458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147754856	chr2:133041459-133041460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118177589	chr2:133041462-133041463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62163814	chr2:133041468-133041469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531340756	chr2:133041472-133041473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62163815	chr2:133041483-133041484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114149873	chr2:133041484-133041485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138568174	chr2:133041488-133041489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145496816	chr2:133041495-133041496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116427535	chr2:133041496-133041497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111295160	chr2:133041508-133041509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144235622	chr2:133041522-133041523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62163816	chr2:133041523-133041524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137972896	chr2:133041527-133041528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139780279	chr2:133041538-133041539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4432507	chr2:133041543-133041544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549363406	chr2:133041552-133041553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62163817	chr2:133041563-133041564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565278452	chr2:133041576-133041577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532652249	chr2:133041654-133041655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547655547	chr2:133041659-133041660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372744401	chr2:133041670-133041671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376691818	chr2:133041673-133041674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536403964	chr2:133041676-133041677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367660231	chr2:133041678-133041679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2138830	chr2:133041696-133041697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371787635	chr2:133041703-133041704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376205559	chr2:133041704-133041705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369193362	chr2:133041719-133041720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537480402	chr2:133041720-133041721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558974194	chr2:133041725-133041726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78539832	chr2:133041732-133041733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78590310	chr2:133041741-133041742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578018368	chr2:133041745-133041746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78918898	chr2:133041746-133041747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74945671	chr2:133041765-133041766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78636869	chr2:133041770-133041771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75348988	chr2:133041771-133041772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200863401	chr2:133041773-133041774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2138829	chr2:133041788-133041789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553750826	chr2:133041798-133041799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201463479	chr2:133041799-133041800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572217305	chr2:133041802-133041803	Weak transcription	n/a	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:60 , 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	chr2:133041000-133041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
9	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
10	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
11	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:133043800-133045200	ZNF genes & repeats	Esophagus	oesophagus
13	chr2:133043800-133045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:133043800-133045600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr2:133043800-133045600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr2:133043800-133045800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:133044000-133044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:133044000-133044800	ZNF genes & repeats	Ovary	ovary
19	chr2:133044000-133045400	ZNF genes & repeats	Right Atrium	heart
20	chr2:133044000-133045600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:133044000-133045600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr2:133044000-133045600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:133044000-133045600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr2:133044000-133045600	ZNF genes & repeats	Spleen	Spleen
25	chr2:133044000-133045800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:133044000-133045800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:133044200-133044400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr2:133044200-133044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:133044200-133045200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr2:133044200-133045400	ZNF genes & repeats	Placenta	Placenta
31	chr2:133044200-133045400	ZNF genes & repeats	Lung	lung
32	chr2:133044200-133045600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:133044200-133045600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr2:133044200-133045600	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr2:133044200-133045600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr2:133044200-133045600	Active TSS	Fetal Heart	heart
39	chr2:133044200-133045600	ZNF genes & repeats	Pancreas	Pancrea
40	chr2:133044200-133045600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr2:133044200-133045600	ZNF genes & repeats	Thymus	Thymus
42	chr2:133044200-133045800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr2:133044200-133045800	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr2:133044200-133045800	ZNF genes & repeats	Fetal Brain Male	brain
45	chr2:133044200-133045800	ZNF genes & repeats	Stomach Mucosa	stomach
46	chr2:133044400-133044600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:133044400-133044600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr2:133044400-133044600	Bivalent Enhancer	K562	blood
49	chr2:133044400-133044800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:133044400-133044800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links