Variant report

Variant	esv3367424
Chromosome Location	chr2:133002425-133003901
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: 336 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62164014	chr2:133002430-133002431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62164015	chr2:133002433-133002434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528635246	chr2:133002435-133002436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149785263	chr2:133002449-133002450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138467555	chr2:133002450-133002451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62164016	chr2:133002453-133002454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202129530	chr2:133002466-133002467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566350485	chr2:133002467-133002468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536526040	chr2:133002470-133002471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555181252	chr2:133002471-133002472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376871121	chr2:133002476-133002477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200418770	chr2:133002484-133002485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113627072	chr2:133002491-133002492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376181684	chr2:133002508-133002509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62164017	chr2:133002518-133002519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78178956	chr2:133002534-133002535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570141520	chr2:133002539-133002540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80107972	chr2:133002541-133002542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78369811	chr2:133002551-133002552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79213329	chr2:133002552-133002553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149942985	chr2:133002555-133002556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199764075	chr2:133002556-133002557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140542954	chr2:133002564-133002565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77729875	chr2:133002567-133002568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75915731	chr2:133002568-133002569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80019870	chr2:133002571-133002572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146548016	chr2:133002573-133002574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140568516	chr2:133002576-133002577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149450847	chr2:133002586-133002587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139256980	chr2:133002588-133002589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77011322	chr2:133002589-133002590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145886207	chr2:133002590-133002591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74948464	chr2:133002593-133002594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537599837	chr2:133002596-133002597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79816974	chr2:133002600-133002601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533312217	chr2:133002606-133002607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79789536	chr2:133002608-133002609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141440260	chr2:133002611-133002612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140950540	chr2:133002616-133002617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151145650	chr2:133002621-133002622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141051153	chr2:133002623-133002624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138314192	chr2:133002624-133002625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141014059	chr2:133002627-133002628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145498275	chr2:133002636-133002637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76893542	chr2:133002639-133002640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143879662	chr2:133002640-133002641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148566027	chr2:133002641-133002642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74758314	chr2:133002643-133002644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112907071	chr2:133002644-133002645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148885281	chr2:133002645-133002646	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:145 , 50 per page) page: 1 2 3

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	chr2:133000200-133003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:133000200-133003200	Weak transcription	Placenta	Placenta
11	chr2:133000200-133003200	Weak transcription	Ovary	ovary
12	chr2:133000200-133003200	Weak transcription	Right Ventricle	heart
13	chr2:133000200-133003200	Weak transcription	Small Intestine	intestine
14	chr2:133000600-133003200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:133000800-133003200	Weak transcription	GM12878-XiMat	blood
16	chr2:133000800-133003200	Weak transcription	HSMMtube	muscle
17	chr2:133000800-133003200	Weak transcription	NH-A	brain
18	chr2:133000800-133003200	Weak transcription	NHLF	lung
19	chr2:133001400-133003200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:133002200-133003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
24	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
26	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:133002400-133003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:133002400-133003200	Weak transcription	HUVEC	blood vessel
29	chr2:133002800-133003200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:133002800-133003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr2:133002800-133003800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr2:133003000-133003600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr2:133003000-133003600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:133003000-133003600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:133003000-133003600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:133003000-133003600	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr2:133003000-133003600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:133003000-133003600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr2:133003000-133003600	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr2:133003000-133003600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:133003000-133003600	ZNF genes & repeats	Psoas Muscle	Psoas
42	chr2:133003000-133003600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr2:133003000-133003600	ZNF genes & repeats	HMEC	breast
44	chr2:133003000-133003800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr2:133003000-133003800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:133003000-133003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:133003200-133003400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:133003200-133003400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:133003200-133003400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:133003200-133003600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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