Variant report

Variant	esv3415989
Chromosome Location	chr2:132969145-132996474
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: 2457 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2457 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144574907	chr2:132969160-132969161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566613907	chr2:132969161-132969162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141331334	chr2:132969166-132969167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201284020	chr2:132969175-132969176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181539075	chr2:132969178-132969179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs202134332	chr2:132974407-132974408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs62165463	chr2:132974409-132974410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375780214	chr2:132974415-132974416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113039614	chr2:132974426-132974427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77157175	chr2:132974431-132974432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562058598	chr2:132974435-132974436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79995448	chr2:132974441-132974442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74424829	chr2:132974442-132974443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76554953	chr2:132974444-132974445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529163392	chr2:132974445-132974446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78291468	chr2:132974446-132974447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201282022	chr2:132974467-132974468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74863977	chr2:132974471-132974472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77886865	chr2:132974472-132974473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76573107	chr2:132974473-132974474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77613606	chr2:132974477-132974478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550801115	chr2:132974487-132974488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569036804	chr2:132974490-132974491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140843760	chr2:132974502-132974503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149498761	chr2:132974503-132974504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs78492278	chr2:132974504-132974505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139833309	chr2:132974510-132974511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368103174	chr2:132974516-132974517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539626625	chr2:132974522-132974523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146470512	chr2:132974524-132974525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200554145	chr2:132974527-132974528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79246842	chr2:132974529-132974530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551526389	chr2:132974530-132974531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180735292	chr2:132974532-132974533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76486354	chr2:132974538-132974539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79334151	chr2:132974540-132974541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79138003	chr2:132974541-132974542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79216945	chr2:132974544-132974545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76008005	chr2:132974546-132974547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113266005	chr2:132974550-132974551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533824014	chr2:132974552-132974553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73614991	chr2:132974558-132974559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555022594	chr2:132974562-132974563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75802333	chr2:132974564-132974565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75775404	chr2:132974567-132974568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78629247	chr2:132974569-132974570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201853166	chr2:132974571-132974572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78308808	chr2:132974574-132974575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77711475	chr2:132974575-132974576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79488329	chr2:132974576-132974577	ZNF genes & repeats	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:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132969000-132969200	ZNF genes & repeats	Liver	Liver
2	chr2:132974400-132975400	ZNF genes & repeats	Fetal Brain Male	brain
3	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
7	chr2:132975800-132976800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr2:132976000-132977800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr2:132976000-132977800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:132976200-132977400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:132976200-132977800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr2:132976200-132977800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr2:132976400-132976600	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr2:132976400-132976800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr2:132976400-132977200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:132976600-132976800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:132976600-132977600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:132976800-132996200	Weak transcription	NHEK	skin
22	chr2:132977200-132980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:132977400-132980600	Weak transcription	K562	blood
24	chr2:132977600-132977800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:132977600-132977800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:132977600-132977800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr2:132977600-132977800	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr2:132977600-132977800	ZNF genes & repeats	Fetal Heart	heart
29	chr2:132977600-132977800	ZNF genes & repeats	HUVEC	blood vessel
30	chr2:132977600-132977800	ZNF genes & repeats	Osteobl	bone
31	chr2:132977800-132980200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:132977800-132980400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:132977800-132980400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:132977800-132980400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:132977800-132980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:132977800-132980600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:132977800-132980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:132977800-132980600	Weak transcription	Primary T cells from cord blood	blood
39	chr2:132977800-132980600	Weak transcription	Fetal Brain Male	brain
40	chr2:132977800-132980600	Weak transcription	Fetal Heart	heart
41	chr2:132977800-132980600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:132977800-132980600	Weak transcription	HUVEC	blood vessel
43	chr2:132977800-132980600	Weak transcription	Osteobl	bone
44	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
45	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr2:132980600-132980800	ZNF genes & repeats	Osteobl	bone
49	chr2:132980600-132981200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:132980600-132981200	ZNF genes & repeats	Fetal Heart	heart

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