Variant report

Variant	esv3343734
Chromosome Location	chr2:133003241-133004492
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: 264 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75851280	chr2:133003243-133003244	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75221757	chr2:133003246-133003247	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74332867	chr2:133003247-133003248	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62164019	chr2:133003248-133003249	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62164020	chr2:133003261-133003262	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374046028	chr2:133003263-133003264	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79008599	chr2:133003264-133003265	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201240692	chr2:133003268-133003269	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146342690	chr2:133003270-133003271	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77205553	chr2:133003280-133003281	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78027197	chr2:133003281-133003282	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78491384	chr2:133003282-133003283	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62164022	chr2:133003286-133003287	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368849588	chr2:133003288-133003289	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76537843	chr2:133003290-133003291	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199682602	chr2:133003293-133003294	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200248876	chr2:133003294-133003295	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373090126	chr2:133003299-133003300	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376934111	chr2:133003300-133003301	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78525945	chr2:133003303-133003304	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111599808	chr2:133003312-133003313	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201440027	chr2:133003318-133003319	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199682329	chr2:133003324-133003325	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200504373	chr2:133003329-133003330	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62164039	chr2:133003331-133003332	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374723283	chr2:133003335-133003336	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113648702	chr2:133003337-133003338	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554524913	chr2:133003338-133003339	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376850410	chr2:133003342-133003343	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71257408	chr2:133003350-133003351	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189141372	chr2:133003351-133003352	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543615689	chr2:133003355-133003356	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370606979	chr2:133003357-133003358	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201810175	chr2:133003363-133003364	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79082821	chr2:133003364-133003365	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62164040	chr2:133003367-133003368	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62164041	chr2:133003371-133003372	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201666159	chr2:133003373-133003374	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62164042	chr2:133003396-133003397	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374554823	chr2:133003398-133003399	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147810036	chr2:133003427-133003428	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs144913532	chr2:133003430-133003431	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs145451371	chr2:133003438-133003439	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs141405007	chr2:133003443-133003444	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs565053941	chr2:133003444-133003445	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs139847438	chr2:133003447-133003448	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs111750544	chr2:133003451-133003452	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs201166118	chr2:133003452-133003453	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs116845941	chr2:133003455-133003456	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs147036840	chr2:133003458-133003459	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	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:140 , 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	chr2:133002200-133003600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:133002200-133003800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:133002200-133003800	ZNF genes & repeats	Fetal Brain Male	brain
11	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
13	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr2:133002800-133003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr2:133002800-133003800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr2:133003000-133003600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr2:133003000-133003600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:133003000-133003600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:133003000-133003600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:133003000-133003600	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr2:133003000-133003600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:133003000-133003600	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr2:133003000-133003600	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr2:133003000-133003600	ZNF genes & repeats	Fetal Stomach	stomach
25	chr2:133003000-133003600	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr2:133003000-133003600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr2:133003000-133003600	ZNF genes & repeats	HMEC	breast
28	chr2:133003000-133003800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr2:133003000-133003800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:133003000-133003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:133003200-133003400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:133003200-133003400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:133003200-133003400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:133003200-133003600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:133003200-133003600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr2:133003200-133003600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:133003200-133003600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:133003200-133003600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:133003200-133003600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr2:133003200-133003600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr2:133003200-133003600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr2:133003200-133003600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
49	chr2:133003200-133003600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:133003200-133003600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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