Variant report

Variant	esv1818269
Chromosome Location	chr2:133040648-133043654
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: 322 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373332349	chr2:133040649-133040650	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs74720489	chr2:133040650-133040651	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376824321	chr2:133040656-133040657	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553851646	chr2:133040657-133040658	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572500008	chr2:133040661-133040662	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369707108	chr2:133040672-133040673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373064622	chr2:133040673-133040674	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542697666	chr2:133040674-133040675	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs72878007	chr2:133040677-133040678	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376467795	chr2:133040678-133040679	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370915759	chr2:133040680-133040681	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373735788	chr2:133040683-133040684	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28657835	chr2:133040697-133040698	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79403592	chr2:133040700-133040701	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75357638	chr2:133040707-133040708	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs78362927	chr2:133040725-133040726	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74796760	chr2:133040729-133040730	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552645927	chr2:133040736-133040737	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544511162	chr2:133040738-133040739	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570910016	chr2:133040741-133040742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562730654	chr2:133040742-133040743	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533162424	chr2:133040762-133040763	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78798515	chr2:133040769-133040770	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76104064	chr2:133040771-133040772	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79054596	chr2:133040805-133040806	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112047211	chr2:133040816-133040817	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28669345	chr2:133040832-133040833	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs28452442	chr2:133040835-133040836	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527362683	chr2:133040840-133040841	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112112411	chr2:133040844-133040845	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111765122	chr2:133040856-133040857	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76347888	chr2:133040863-133040864	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200291940	chr2:133040866-133040867	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77886085	chr2:133040869-133040870	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79553414	chr2:133040887-133040888	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200564897	chr2:133040912-133040913	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201922082	chr2:133040923-133040924	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199659156	chr2:133040945-133040946	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200957665	chr2:133040947-133040948	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199581827	chr2:133040955-133040956	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111254470	chr2:133040970-133040971	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113198454	chr2:133040971-133040972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548732437	chr2:133040980-133040981	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs67460261	chr2:133040987-133040988	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567278188	chr2:133040991-133040992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs531176702	chr2:133040994-133040995	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73958544	chr2:133041002-133041003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550074038	chr2:133041015-133041016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571562042	chr2:133041018-133041019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538893876	chr2:133041033-133041034	Weak transcription ZNF genes & repeats	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:12 , 50 per page) page: 1

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	chr2:133040600-133041000	Active TSS	Hela-S3	cervix
8	chr2:133041000-133041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
10	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
11	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
12	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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