Variant report

Variant	esv3352112
Chromosome Location	chr2:132987039-132999042
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	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:
2	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:

Extended variants
information (count: 1380 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6708850	chr2:132987046-132987047	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78364854	chr2:132987057-132987058	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80055527	chr2:132987059-132987060	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77676819	chr2:132987063-132987064	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75027388	chr2:132987064-132987065	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567678912	chr2:132987076-132987077	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79041655	chr2:132987086-132987087	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77000846	chr2:132987089-132987090	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74576692	chr2:132987091-132987092	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200072734	chr2:132987092-132987093	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75865119	chr2:132987097-132987098	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76934259	chr2:132987099-132987100	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74752068	chr2:132987100-132987101	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76367726	chr2:132987106-132987107	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538366521	chr2:132987107-132987108	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80245114	chr2:132987111-132987112	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200467321	chr2:132987112-132987113	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75458357	chr2:132987115-132987116	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79850207	chr2:132987116-132987117	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77191280	chr2:132987119-132987120	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77955668	chr2:132987125-132987126	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75148299	chr2:132987136-132987137	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79051288	chr2:132987140-132987141	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77575255	chr2:132987141-132987142	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78416743	chr2:132987149-132987150	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76769137	chr2:132987151-132987152	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77617986	chr2:132987159-132987160	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75961356	chr2:132987160-132987161	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200336112	chr2:132987165-132987166	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571707301	chr2:132987170-132987171	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539029352	chr2:132987175-132987176	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10183687	chr2:132987184-132987185	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80045850	chr2:132987189-132987190	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74623945	chr2:132987190-132987191	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75192457	chr2:132987192-132987193	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76575231	chr2:132987195-132987196	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573134421	chr2:132987199-132987200	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74799006	chr2:132987200-132987201	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540069322	chr2:132987203-132987204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79729782	chr2:132987209-132987210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555509479	chr2:132987212-132987213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77094125	chr2:132987228-132987229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373252632	chr2:132987231-132987232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141063386	chr2:132987232-132987233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143699198	chr2:132987235-132987236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143287979	chr2:132987237-132987238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142511192	chr2:132987238-132987239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113472202	chr2:132987239-132987240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78188794	chr2:132987243-132987244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146735341	chr2:132987246-132987247	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:263 , 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	chr2:132984000-132994800	Weak transcription	K562	blood
3	chr2:132985400-132987600	Weak transcription	HSMMtube	muscle
4	chr2:132985400-132987600	Weak transcription	HUVEC	blood vessel
5	chr2:132985600-132987400	Weak transcription	Osteobl	bone
6	chr2:132986600-132988400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:132986600-132988600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr2:132986800-132987200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr2:132986800-132987200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:132986800-132987200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:132986800-132987200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:132986800-132987200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:132986800-132987200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:132986800-132987200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr2:132986800-132987200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr2:132986800-132987200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:132986800-132987200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:132986800-132987200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
21	chr2:132986800-132987200	Flanking Active TSS	Aorta	Aorta
22	chr2:132986800-132987200	ZNF genes & repeats	Colonic Mucosa	Colon
23	chr2:132986800-132987200	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr2:132986800-132987200	ZNF genes & repeats	Fetal Kidney	kidney
25	chr2:132986800-132987200	ZNF genes & repeats	Gastric	stomach
26	chr2:132986800-132987200	Active TSS	Psoas Muscle	Psoas
27	chr2:132986800-132987200	ZNF genes & repeats	Small Intestine	intestine
28	chr2:132986800-132987400	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr2:132986800-132987600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr2:132986800-132988000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:132986800-132988000	ZNF genes & repeats	Left Ventricle	heart
32	chr2:132986800-132988200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr2:132986800-132988200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr2:132986800-132988200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr2:132986800-132988200	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr2:132986800-132988200	ZNF genes & repeats	Liver	Liver
37	chr2:132986800-132988200	ZNF genes & repeats	GM12878-XiMat	blood
38	chr2:132986800-132988400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr2:132986800-132988400	ZNF genes & repeats	Fetal Brain Male	brain
40	chr2:132986800-132988400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr2:132986800-132989000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:132987000-132987200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:132987000-132987200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:132987000-132987200	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr2:132987000-132987600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:132987000-132988200	ZNF genes & repeats	NH-A	brain
47	chr2:132987200-132987800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:132987200-132987800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:132987200-132995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:132987400-132987800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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