Variant report

Variant	esv3349135
Chromosome Location	chr2:132999158-133000121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202132820	chr2:132999160-132999161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563194628	chr2:132999167-132999168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575208335	chr2:132999176-132999177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62163980	chr2:132999187-132999188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545451669	chr2:132999189-132999190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201313137	chr2:132999215-132999216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112253919	chr2:132999226-132999227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111519783	chr2:132999235-132999236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563713716	chr2:132999247-132999248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60574470	chr2:132999248-132999249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115481115	chr2:132999255-132999256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149780283	chr2:132999263-132999264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148016924	chr2:132999271-132999272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141489105	chr2:132999272-132999273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113836020	chr2:132999275-132999276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546882407	chr2:132999279-132999280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111953548	chr2:132999281-132999282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148754502	chr2:132999286-132999287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113056870	chr2:132999294-132999295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147752859	chr2:132999299-132999300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529402399	chr2:132999304-132999305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187622460	chr2:132999318-132999319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145813034	chr2:132999330-132999331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138155538	chr2:132999331-132999332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551064980	chr2:132999335-132999336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112900915	chr2:132999337-132999338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201383254	chr2:132999339-132999340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539845174	chr2:132999344-132999345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201447078	chr2:132999349-132999350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201837416	chr2:132999353-132999354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62163981	chr2:132999356-132999357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551513043	chr2:132999381-132999382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200366450	chr2:132999385-132999386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375392805	chr2:132999388-132999389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200469169	chr2:132999391-132999392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62163982	chr2:132999403-132999404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113804886	chr2:132999405-132999406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200740277	chr2:132999409-132999410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201689760	chr2:132999410-132999411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373946904	chr2:132999414-132999415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377410015	chr2:132999415-132999416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370597612	chr2:132999417-132999418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62163983	chr2:132999432-132999433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62163984	chr2:132999435-132999436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62163985	chr2:132999439-132999440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566856894	chr2:132999443-132999444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62163986	chr2:132999447-132999448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113766159	chr2:132999448-132999449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534962846	chr2:132999458-132999459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111359801	chr2:132999463-132999464	ZNF genes & repeats Weak transcription	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
13	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr2:132996600-132999800	Weak transcription	A549	lung
16	chr2:132996600-132999800	Weak transcription	NHLF	lung
17	chr2:132996600-133003400	Weak transcription	NHEK	skin
18	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:132997600-132999800	Weak transcription	K562	blood
21	chr2:132997800-132999800	Weak transcription	Ovary	ovary
22	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
23	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
26	chr2:132998400-132999800	Weak transcription	NH-A	brain
27	chr2:132998600-132999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:132998600-132999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:132998600-132999800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:132998600-132999800	Weak transcription	Hela-S3	cervix
31	chr2:132998800-133000400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
32	chr2:132999000-132999800	Weak transcription	Aorta	Aorta
33	chr2:132999000-132999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:132999000-132999800	Weak transcription	HUVEC	blood vessel
35	chr2:132999800-133000000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:132999800-133000000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr2:132999800-133000000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr2:132999800-133000000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:132999800-133000000	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr2:132999800-133000000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
41	chr2:132999800-133000000	ZNF genes & repeats	A549	lung
42	chr2:132999800-133000000	ZNF genes & repeats	Hela-S3	cervix
43	chr2:132999800-133000200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:132999800-133000200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr2:132999800-133000200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:132999800-133000200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:132999800-133000200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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