Variant report

Variant	esv19836
Chromosome Location	chr2:133039249-133047293
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:2)
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	chr1:156186275..156187889-chr2:133036670..133039645,2	K562	blood:
5	chr2:133038935..133039656-chr8:56754719..56755312,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

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

No data

Extended variants
information (count: 895 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75569505	chr2:133039254-133039255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79657346	chr2:133039257-133039258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558493743	chr2:133039267-133039268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79466495	chr2:133039290-133039291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77955737	chr2:133039291-133039292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540861495	chr2:133039296-133039297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78826669	chr2:133039298-133039299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540598995	chr2:133039299-133039300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574149218	chr2:133039302-133039303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76319194	chr2:133039331-133039332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77632050	chr2:133039337-133039338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544391962	chr2:133039346-133039347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78736934	chr2:133039354-133039355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562956992	chr2:133039374-133039375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533157235	chr2:133039377-133039378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75520328	chr2:133039380-133039381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2315205	chr2:133039381-133039382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564082177	chr2:133039387-133039388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200812536	chr2:133039388-133039389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528356852	chr2:133039390-133039391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546803851	chr2:133039397-133039398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78553017	chr2:133039402-133039403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113323089	chr2:133039441-133039442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76821656	chr2:133039446-133039447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77673433	chr2:133039495-133039496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568185309	chr2:133039535-133039536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200850500	chr2:133039536-133039537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535604188	chr2:133039539-133039540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77887042	chr2:133039542-133039543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550414510	chr2:133039545-133039546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568889490	chr2:133039572-133039573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs58974141	chr2:133039573-133039574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62163808	chr2:133039596-133039597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs202133442	chr2:133039608-133039609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200100529	chr2:133039614-133039615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557769377	chr2:133039616-133039617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200356423	chr2:133039634-133039635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111783633	chr2:133039639-133039640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199774169	chr2:133039648-133039649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62163809	chr2:133039654-133039655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573607225	chr2:133039668-133039669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78821430	chr2:133039683-133039684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200482308	chr2:133039698-133039699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534518342	chr2:133039705-133039706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555989036	chr2:133039707-133039708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201492490	chr2:133039714-133039715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139683699	chr2:133039718-133039719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372167978	chr2:133039729-133039730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78917257	chr2:133039734-133039735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75572013	chr2:133039765-133039766	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133018600-133039400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr2:133022800-133039400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
3	chr2:133022800-133039400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr2:133025000-133039400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:133025800-133039400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr2:133027200-133040600	ZNF genes & repeats	Fetal Stomach	stomach
7	chr2:133030800-133039400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr2:133033600-133039400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:133033600-133039400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:133038000-133039400	ZNF genes & repeats	Spleen	Spleen
11	chr2:133038200-133039400	ZNF genes & repeats	Hela-S3	cervix
12	chr2:133039200-133043600	Weak transcription	Gastric	stomach
13	chr2:133039200-133044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:133039200-133044000	Weak transcription	Right Atrium	heart
15	chr2:133039200-133044200	Weak transcription	Stomach Mucosa	stomach
16	chr2:133039200-133044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:133039200-133044400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:133039400-133039600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:133039400-133039800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:133039400-133040600	Weak transcription	Hela-S3	cervix
21	chr2:133040600-133041000	Active TSS	Hela-S3	cervix
22	chr2:133041000-133041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:133042800-133043200	Active TSS	Fetal Heart	heart
24	chr2:133043200-133044200	Weak transcription	Fetal Heart	heart
25	chr2:133043600-133045600	ZNF genes & repeats	Gastric	stomach
26	chr2:133043600-133045800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:133043800-133045200	ZNF genes & repeats	Esophagus	oesophagus
28	chr2:133043800-133045600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:133043800-133045600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr2:133043800-133045600	ZNF genes & repeats	Fetal Stomach	stomach
31	chr2:133043800-133045800	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr2:133044000-133044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:133044000-133044800	ZNF genes & repeats	Ovary	ovary
34	chr2:133044000-133045400	ZNF genes & repeats	Right Atrium	heart
35	chr2:133044000-133045600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:133044000-133045600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr2:133044000-133045600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr2:133044000-133045600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr2:133044000-133045600	ZNF genes & repeats	Spleen	Spleen
40	chr2:133044000-133045800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:133044000-133045800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr2:133044200-133044400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr2:133044200-133044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:133044200-133045200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr2:133044200-133045400	ZNF genes & repeats	Placenta	Placenta
46	chr2:133044200-133045400	ZNF genes & repeats	Lung	lung
47	chr2:133044200-133045600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:133044200-133045600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:133044200-133045600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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