Variant report

Variant	esv3360376
Chromosome Location	chr2:132999608-133003647
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	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:
2	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:

Extended variants
information (count: 679 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62163990	chr2:132999624-132999625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184799008	chr2:132999626-132999627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75159077	chr2:132999637-132999638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74969776	chr2:132999641-132999642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74795656	chr2:132999652-132999653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535259753	chr2:132999653-132999654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373380986	chr2:132999682-132999683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12329210	chr2:132999685-132999686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575270086	chr2:132999692-132999693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545865395	chr2:132999705-132999706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377075367	chr2:132999720-132999721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376438698	chr2:132999730-132999731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370257526	chr2:132999732-132999733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75983360	chr2:132999736-132999737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79029650	chr2:132999741-132999742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78230610	chr2:132999746-132999747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74841400	chr2:132999747-132999748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376058367	chr2:132999752-132999753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58508988	chr2:132999753-132999754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540531938	chr2:132999754-132999755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562006361	chr2:132999762-132999763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78174721	chr2:132999767-132999768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529508331	chr2:132999775-132999776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74437642	chr2:132999782-132999783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374443780	chr2:132999789-132999790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149658922	chr2:132999808-132999809	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544451759	chr2:132999809-132999810	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76245472	chr2:132999819-132999820	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112842744	chr2:132999835-132999836	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201262750	chr2:132999843-132999844	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369668761	chr2:132999845-132999846	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563076017	chr2:132999848-132999849	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533299965	chr2:132999869-132999870	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551900986	chr2:132999873-132999874	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78456584	chr2:132999881-132999882	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566875179	chr2:132999888-132999889	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527643387	chr2:132999895-132999896	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181661082	chr2:132999906-132999907	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371914769	chr2:132999914-132999915	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62163991	chr2:132999917-132999918	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62163992	chr2:132999921-132999922	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372334095	chr2:132999933-132999934	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186792054	chr2:132999937-132999938	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201840019	chr2:132999946-132999947	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74938475	chr2:132999955-132999956	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78809172	chr2:132999972-132999973	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138348437	chr2:132999978-132999979	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200067151	chr2:132999979-132999980	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62163993	chr2:132999982-132999983	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62163994	chr2:132999984-132999985	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription 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:227 , 50 per page) page: 1 2 3 4 5

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	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
12	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr2:132996600-132999800	Weak transcription	A549	lung
15	chr2:132996600-132999800	Weak transcription	NHLF	lung
16	chr2:132996600-133003400	Weak transcription	NHEK	skin
17	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:132997600-132999800	Weak transcription	K562	blood
20	chr2:132997800-132999800	Weak transcription	Ovary	ovary
21	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
24	chr2:132998400-132999800	Weak transcription	NH-A	brain
25	chr2:132998600-132999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:132998600-132999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:132998600-132999800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:132998600-132999800	Weak transcription	Hela-S3	cervix
29	chr2:132998800-133000400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
30	chr2:132999000-132999800	Weak transcription	Aorta	Aorta
31	chr2:132999000-132999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:132999000-132999800	Weak transcription	HUVEC	blood vessel
33	chr2:132999800-133000000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:132999800-133000000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr2:132999800-133000000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr2:132999800-133000000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:132999800-133000000	ZNF genes & repeats	Brain Angular Gyrus	brain
38	chr2:132999800-133000000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
39	chr2:132999800-133000000	ZNF genes & repeats	A549	lung
40	chr2:132999800-133000000	ZNF genes & repeats	Hela-S3	cervix
41	chr2:132999800-133000200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:132999800-133000200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr2:132999800-133000200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:132999800-133000200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:132999800-133000200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:132999800-133000200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
50	chr2:132999800-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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