Variant report

Variant	esv3364979
Chromosome Location	chr2:133040236-133045533
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: 610 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202055283	chr2:133040241-133040242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370835332	chr2:133040245-133040246	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200546810	chr2:133040277-133040278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113546423	chr2:133040292-133040293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201029678	chr2:133040304-133040305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75355039	chr2:133040316-133040317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78962674	chr2:133040327-133040328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537439259	chr2:133040335-133040336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75192444	chr2:133040346-133040347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561882149	chr2:133040347-133040348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs28590753	chr2:133040354-133040355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72878006	chr2:133040365-133040366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544103436	chr2:133040375-133040376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562693905	chr2:133040379-133040380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs80264915	chr2:133040410-133040411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4954289	chr2:133040424-133040425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79957287	chr2:133040425-133040426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551507916	chr2:133040426-133040427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144487216	chr2:133040427-133040428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75347990	chr2:133040437-133040438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566523991	chr2:133040450-133040451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527341693	chr2:133040451-133040452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73958541	chr2:133040466-133040467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201624074	chr2:133040474-133040475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79139789	chr2:133040484-133040485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111974941	chr2:133040509-133040510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62163810	chr2:133040520-133040521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111478641	chr2:133040530-133040531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548952724	chr2:133040534-133040535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76397368	chr2:133040540-133040541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200384259	chr2:133040544-133040545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12165238	chr2:133040561-133040562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201827212	chr2:133040572-133040573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200128967	chr2:133040573-133040574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76180159	chr2:133040587-133040588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73958542	chr2:133040597-133040598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374410363	chr2:133040603-133040604	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368424890	chr2:133040604-133040605	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567901241	chr2:133040608-133040609	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538510710	chr2:133040612-133040613	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372394193	chr2:133040614-133040615	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73958543	chr2:133040620-133040621	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377200877	chr2:133040621-133040622	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369817989	chr2:133040624-133040625	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371695011	chr2:133040626-133040627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs80068438	chr2:133040628-133040629	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs376377363	chr2:133040640-133040641	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369408873	chr2:133040641-133040642	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373332349	chr2:133040649-133040650	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74720489	chr2:133040650-133040651	Weak transcription Active TSS	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133027200-133040600	ZNF genes & repeats	Fetal Stomach	stomach
2	chr2:133039200-133043600	Weak transcription	Gastric	stomach
3	chr2:133039200-133044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:133039200-133044000	Weak transcription	Right Atrium	heart
5	chr2:133039200-133044200	Weak transcription	Stomach Mucosa	stomach
6	chr2:133039200-133044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:133039200-133044400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:133039400-133040600	Weak transcription	Hela-S3	cervix
9	chr2:133040600-133041000	Active TSS	Hela-S3	cervix
10	chr2:133041000-133041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
12	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
13	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
14	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:133043800-133045200	ZNF genes & repeats	Esophagus	oesophagus
16	chr2:133043800-133045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:133043800-133045600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr2:133043800-133045600	ZNF genes & repeats	Fetal Stomach	stomach
19	chr2:133043800-133045800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr2:133044000-133044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:133044000-133044800	ZNF genes & repeats	Ovary	ovary
22	chr2:133044000-133045400	ZNF genes & repeats	Right Atrium	heart
23	chr2:133044000-133045600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:133044000-133045600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr2:133044000-133045600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr2:133044000-133045600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr2:133044000-133045600	ZNF genes & repeats	Spleen	Spleen
28	chr2:133044000-133045800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:133044000-133045800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr2:133044200-133044400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr2:133044200-133044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:133044200-133045200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr2:133044200-133045400	ZNF genes & repeats	Placenta	Placenta
34	chr2:133044200-133045400	ZNF genes & repeats	Lung	lung
35	chr2:133044200-133045600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:133044200-133045600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr2:133044200-133045600	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr2:133044200-133045600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr2:133044200-133045600	Active TSS	Fetal Heart	heart
42	chr2:133044200-133045600	ZNF genes & repeats	Pancreas	Pancrea
43	chr2:133044200-133045600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr2:133044200-133045600	ZNF genes & repeats	Thymus	Thymus
45	chr2:133044200-133045800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr2:133044200-133045800	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr2:133044200-133045800	ZNF genes & repeats	Fetal Brain Male	brain
48	chr2:133044200-133045800	ZNF genes & repeats	Stomach Mucosa	stomach
49	chr2:133044400-133044600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:133044400-133044600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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