Variant report

Variant	esv9434
Chromosome Location	chr2:133039508-133045615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133042500..133043310-chr2:162134708..162135564,2	MCF-7	breast:
2	chr2:133038177..133039677-chr2:230044041..230045609,2	MCF-7	breast:
3	chr19:24183267..24184972-chr2:133036687..133040151,3	K562	blood:
4	chr2:133038935..133039656-chr8:56754719..56755312,2	MCF-7	breast:
5	chr1:156186275..156187889-chr2:133036670..133039645,2	K562	blood:

(count:1 , 50 per page) page: 1

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

No data

Extended variants
information (count: 702 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:702 , 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	rs568185309	chr2:133039535-133039536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200850500	chr2:133039536-133039537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535604188	chr2:133039539-133039540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77887042	chr2:133039542-133039543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550414510	chr2:133039545-133039546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568889490	chr2:133039572-133039573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs58974141	chr2:133039573-133039574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62163808	chr2:133039596-133039597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs202133442	chr2:133039608-133039609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200100529	chr2:133039614-133039615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557769377	chr2:133039616-133039617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200356423	chr2:133039634-133039635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111783633	chr2:133039639-133039640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199774169	chr2:133039648-133039649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62163809	chr2:133039654-133039655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573607225	chr2:133039668-133039669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78821430	chr2:133039683-133039684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200482308	chr2:133039698-133039699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534518342	chr2:133039705-133039706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555989036	chr2:133039707-133039708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201492490	chr2:133039714-133039715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139683699	chr2:133039718-133039719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372167978	chr2:133039729-133039730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78917257	chr2:133039734-133039735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75572013	chr2:133039765-133039766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574158974	chr2:133039766-133039767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs199721567	chr2:133039773-133039774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544742547	chr2:133039777-133039778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562885541	chr2:133039780-133039781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs202231545	chr2:133039785-133039786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577708958	chr2:133039797-133039798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76124311	chr2:133039832-133039833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs199536474	chr2:133039849-133039850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79606237	chr2:133039865-133039866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80168873	chr2:133039872-133039873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369482962	chr2:133039874-133039875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545036736	chr2:133039876-133039877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544482456	chr2:133039887-133039888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560096665	chr2:133039890-133039891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201150655	chr2:133039893-133039894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs527652646	chr2:133039910-133039911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145760388	chr2:133039914-133039915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114731923	chr2:133039924-133039925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115260502	chr2:133039925-133039926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115574020	chr2:133039926-133039927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148606057	chr2:133039927-133039928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111719827	chr2:133039930-133039931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529083493	chr2:133039933-133039934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77886621	chr2:133039947-133039948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550749592	chr2:133039950-133039951	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:66 , 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	chr2:133039400-133039600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:133039400-133039800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:133039400-133040600	Weak transcription	Hela-S3	cervix
11	chr2:133040600-133041000	Active TSS	Hela-S3	cervix
12	chr2:133041000-133041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
14	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
15	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
16	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:133043800-133045200	ZNF genes & repeats	Esophagus	oesophagus
18	chr2:133043800-133045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:133043800-133045600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr2:133043800-133045600	ZNF genes & repeats	Fetal Stomach	stomach
21	chr2:133043800-133045800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr2:133044000-133044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:133044000-133044800	ZNF genes & repeats	Ovary	ovary
24	chr2:133044000-133045400	ZNF genes & repeats	Right Atrium	heart
25	chr2:133044000-133045600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:133044000-133045600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr2:133044000-133045600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:133044000-133045600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
29	chr2:133044000-133045600	ZNF genes & repeats	Spleen	Spleen
30	chr2:133044000-133045800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:133044000-133045800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr2:133044200-133044400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr2:133044200-133044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:133044200-133045200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr2:133044200-133045400	ZNF genes & repeats	Placenta	Placenta
36	chr2:133044200-133045400	ZNF genes & repeats	Lung	lung
37	chr2:133044200-133045600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:133044200-133045600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr2:133044200-133045600	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr2:133044200-133045600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr2:133044200-133045600	Active TSS	Fetal Heart	heart
44	chr2:133044200-133045600	ZNF genes & repeats	Pancreas	Pancrea
45	chr2:133044200-133045600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr2:133044200-133045600	ZNF genes & repeats	Thymus	Thymus
47	chr2:133044200-133045800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr2:133044200-133045800	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr2:133044200-133045800	ZNF genes & repeats	Fetal Brain Male	brain
50	chr2:133044200-133045800	ZNF genes & repeats	Stomach Mucosa	stomach

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