Variant report

Variant	esv3451341
Chromosome Location	chr2:133001792-133004120
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	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:
2	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:

Extended variants
information (count: 521 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78947636	chr2:133001795-133001796	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79366106	chr2:133001796-133001797	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201243828	chr2:133001799-133001800	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527442103	chr2:133001802-133001803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201901306	chr2:133001810-133001811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77339142	chr2:133001811-133001812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111761742	chr2:133001826-133001827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548818753	chr2:133001827-133001828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75643905	chr2:133001831-133001832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112806627	chr2:133001835-133001836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113869733	chr2:133001836-133001837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575727963	chr2:133001842-133001843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113459803	chr2:133001843-133001844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531283309	chr2:133001845-133001846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62164005	chr2:133001851-133001852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549779425	chr2:133001853-133001854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200940213	chr2:133001858-133001859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75530853	chr2:133001872-133001873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113153785	chr2:133001877-133001878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111344595	chr2:133001878-133001879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199617489	chr2:133001881-133001882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571250113	chr2:133001890-133001891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs202150617	chr2:133001891-133001892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144631839	chr2:133001892-133001893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75198484	chr2:133001893-133001894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145574783	chr2:133001898-133001899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143107089	chr2:133001900-133001901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79699866	chr2:133001902-133001903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs139335736	chr2:133001908-133001909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145126540	chr2:133001915-133001916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148247425	chr2:133001921-133001922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77040728	chr2:133001930-133001931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150613083	chr2:133001932-133001933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76645228	chr2:133001933-133001934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554456986	chr2:133001934-133001935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78594914	chr2:133001939-133001940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs140657265	chr2:133001948-133001949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141363981	chr2:133001956-133001957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148302073	chr2:133001959-133001960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146119518	chr2:133001962-133001963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142049819	chr2:133001963-133001964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145269642	chr2:133001967-133001968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs148935651	chr2:133001970-133001971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145137202	chr2:133001971-133001972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149255944	chr2:133001972-133001973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148670909	chr2:133001973-133001974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566288892	chr2:133001974-133001975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146547669	chr2:133001976-133001977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143758914	chr2:133001980-133001981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79457044	chr2:133001983-133001984	Weak transcription ZNF genes & repeats	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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:132996600-133003400	Weak transcription	NHEK	skin
8	chr2:133000000-133003200	Weak transcription	Hela-S3	cervix
9	chr2:133000200-133002200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
12	chr2:133000200-133003200	Weak transcription	Ovary	ovary
13	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
14	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
15	chr2:133000400-133002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:133000400-133002000	Weak transcription	Stomach Mucosa	stomach
17	chr2:133000600-133002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
20	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
21	chr2:133000800-133003200	Weak transcription	NH-A	brain
22	chr2:133000800-133003200	Weak transcription	NHLF	lung
23	chr2:133001200-133001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:133001600-133002200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133002000-133002400	ZNF genes & repeats	HUVEC	blood vessel
27	chr2:133002200-133002400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:133002200-133002400	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
34	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
35	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel
38	chr2:133002800-133003200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:133002800-133003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr2:133002800-133003800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr2:133003000-133003600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr2:133003000-133003600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:133003000-133003600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:133003000-133003600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:133003000-133003600	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr2:133003000-133003600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:133003000-133003600	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr2:133003000-133003600	ZNF genes & repeats	Colon Smooth Muscle	Colon
49	chr2:133003000-133003600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr2:133003000-133003600	ZNF genes & repeats	Psoas Muscle	Psoas

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