Variant report

Variant	esv3405219
Chromosome Location	chr2:132995941-132996220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113929716	chr2:132995942-132995943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530708387	chr2:132995959-132995960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199868327	chr2:132995966-132995967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78941235	chr2:132995980-132995981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13423012	chr2:132996006-132996007	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192408916	chr2:132996009-132996010	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549881079	chr2:132996010-132996011	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182498395	chr2:132996026-132996027	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533111091	chr2:132996033-132996034	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75999447	chr2:132996059-132996060	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551644623	chr2:132996065-132996066	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566377889	chr2:132996098-132996099	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186787211	chr2:132996115-132996116	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571634820	chr2:132996125-132996126	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77928798	chr2:132996130-132996131	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189438804	chr2:132996136-132996137	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200338732	chr2:132996140-132996141	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555053165	chr2:132996153-132996154	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375982064	chr2:132996154-132996155	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62166195	chr2:132996165-132996166	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62166196	chr2:132996170-132996171	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370588417	chr2:132996171-132996172	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62166197	chr2:132996183-132996184	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140368741	chr2:132996184-132996185	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555919046	chr2:132996186-132996187	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150994647	chr2:132996187-132996188	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145657753	chr2:132996193-132996194	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141532327	chr2:132996194-132996195	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62166198	chr2:132996199-132996200	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17289997	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr2:132995200-132996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:132995200-132996200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:132995200-132996200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:132995200-132996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:132995200-132996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:132995200-132996200	Weak transcription	Left Ventricle	heart
14	chr2:132995200-132996200	Weak transcription	Dnd41	blood
15	chr2:132995200-132996200	Weak transcription	GM12878-XiMat	blood
16	chr2:132995200-132996200	Weak transcription	Hela-S3	cervix
17	chr2:132995200-132996200	Weak transcription	HSMMtube	muscle
18	chr2:132995200-132996200	Weak transcription	HUVEC	blood vessel
19	chr2:132995200-132996200	Weak transcription	K562	blood
20	chr2:132995200-132996200	Weak transcription	NH-A	brain
21	chr2:132995200-132996200	Weak transcription	NHLF	lung
22	chr2:132995200-132996200	Weak transcription	Osteobl	bone
23	chr2:132995400-132996200	Weak transcription	HepG2	liver
24	chr2:132995400-132996200	Weak transcription	HMEC	breast
25	chr2:132996000-132996200	Enhancers	Thymus	Thymus
26	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr2:132996200-132996400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:132996200-132996400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:132996200-132996400	Active TSS	Right Atrium	heart
30	chr2:132996200-132996400	ZNF genes & repeats	Spleen	Spleen
31	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:132996200-132996600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:132996200-132996600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr2:132996200-132996600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr2:132996200-132996600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
36	chr2:132996200-132996600	ZNF genes & repeats	Fetal Kidney	kidney
37	chr2:132996200-132996600	ZNF genes & repeats	Fetal Lung	lung
38	chr2:132996200-132996600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
39	chr2:132996200-132996600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr2:132996200-132996600	Flanking Active TSS	Thymus	Thymus
41	chr2:132996200-132996600	ZNF genes & repeats	A549	lung
42	chr2:132996200-132996600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr2:132996200-132996600	ZNF genes & repeats	HMEC	breast
44	chr2:132996200-132996600	ZNF genes & repeats	HSMM	muscle
45	chr2:132996200-132996600	ZNF genes & repeats	NHEK	skin
46	chr2:132996200-132996600	ZNF genes & repeats	NHLF	lung
47	chr2:132996200-132996600	ZNF genes & repeats	Osteobl	bone
48	chr2:132996200-132996800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
49	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:132996200-132996800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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