Variant report

Variant	esv3392519
Chromosome Location	chr2:132981439-132996373
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	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:
2	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:

Extended variants
information (count: 1687 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535433904	chr2:132981448-132981449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140538159	chr2:132981451-132981452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141179748	chr2:132981452-132981453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200794630	chr2:132981453-132981454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189063388	chr2:132981470-132981471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62165552	chr2:132981475-132981476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557680894	chr2:132981476-132981477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111527603	chr2:132981485-132981486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112850650	chr2:132981491-132981492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372165809	chr2:132981503-132981504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6715921	chr2:132981504-132981505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367600475	chr2:132981513-132981514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62165553	chr2:132981515-132981516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558032478	chr2:132981518-132981519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62165554	chr2:132981526-132981527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62165555	chr2:132981528-132981529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35298789	chr2:132981536-132981537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376793083	chr2:132981548-132981549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200261458	chr2:132981551-132981552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62165556	chr2:132981556-132981557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561839854	chr2:132981558-132981559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111874425	chr2:132981580-132981581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200837295	chr2:132981581-132981582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112917598	chr2:132981590-132981591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144227020	chr2:132981594-132981595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150736748	chr2:132981595-132981596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563610676	chr2:132981616-132981617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369737698	chr2:132981624-132981625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201639592	chr2:132981628-132981629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115372381	chr2:132981630-132981631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114370990	chr2:132981638-132981639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372231082	chr2:132981654-132981655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552370991	chr2:132981655-132981656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570583025	chr2:132981656-132981657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138012841	chr2:132981671-132981672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377264507	chr2:132981672-132981673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138051378	chr2:132981674-132981675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369811557	chr2:132981675-132981676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114824168	chr2:132981676-132981677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373850309	chr2:132981689-132981690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111575241	chr2:132981696-132981697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568157696	chr2:132981697-132981698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376290928	chr2:132981698-132981699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369131137	chr2:132981714-132981715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79895863	chr2:132981717-132981718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372104739	chr2:132981723-132981724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113682464	chr2:132981724-132981725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372981866	chr2:132981730-132981731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556641065	chr2:132981731-132981732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143616560	chr2:132981733-132981734	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:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr2:132980600-132981600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr2:132980600-132983400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr2:132980600-132983800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:132980600-132983800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr2:132980600-132984000	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:132980800-132981600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:132980800-132983800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:132981200-132983000	Weak transcription	K562	blood
13	chr2:132982200-132983800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr2:132982200-132984000	ZNF genes & repeats	HUVEC	blood vessel
15	chr2:132982600-132983800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr2:132982800-132983800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:132982800-132984000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr2:132982800-132984000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr2:132982800-132984000	ZNF genes & repeats	Liver	Liver
20	chr2:132983000-132983400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:132983400-132984000	ZNF genes & repeats	K562	blood
22	chr2:132983400-132985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:132983600-132983800	Active TSS	Hela-S3	cervix
24	chr2:132983600-132984000	ZNF genes & repeats	HSMMtube	muscle
25	chr2:132983600-132984000	ZNF genes & repeats	NH-A	brain
26	chr2:132983800-132984000	Flanking Active TSS	Hela-S3	cervix
27	chr2:132984000-132985000	Weak transcription	HSMMtube	muscle
28	chr2:132984000-132985000	Weak transcription	HUVEC	blood vessel
29	chr2:132984000-132985000	Weak transcription	NH-A	brain
30	chr2:132984000-132994800	Weak transcription	K562	blood
31	chr2:132984200-132985400	ZNF genes & repeats	Fetal Brain Male	brain
32	chr2:132984400-132985400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr2:132985000-132985400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:132985000-132985400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:132985000-132985400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr2:132985000-132985400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:132985000-132985400	ZNF genes & repeats	Liver	Liver
38	chr2:132985000-132985400	ZNF genes & repeats	Psoas Muscle	Psoas
39	chr2:132985000-132985400	ZNF genes & repeats	HSMMtube	muscle
40	chr2:132985000-132985400	ZNF genes & repeats	HUVEC	blood vessel
41	chr2:132985000-132985400	ZNF genes & repeats	NH-A	brain
42	chr2:132985200-132985400	ZNF genes & repeats	Dnd41	blood
43	chr2:132985200-132985400	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr2:132985400-132986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:132985400-132986600	Weak transcription	Dnd41	blood
46	chr2:132985400-132986800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:132985400-132986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:132985400-132986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:132985400-132986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:132985400-132986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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