Variant report

Variant	esv3337779
Chromosome Location	chr2:188222648-188223210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1011988	chr2:188222678-188222679	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544223200	chr2:188222809-188222810	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543600829	chr2:188222890-188222891	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556093288	chr2:188222895-188222896	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140456603	chr2:188222903-188222904	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545737556	chr2:188222906-188222907	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564381617	chr2:188222914-188222915	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528307324	chr2:188222927-188222928	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1011989	chr2:188222928-188222929	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561485907	chr2:188222947-188222948	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180834039	chr2:188222957-188222958	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34424141	chr2:188222991-188222992	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528934681	chr2:188223051-188223052	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572076760	chr2:188223150-188223151	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547990868	chr2:188223207-188223208	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
4	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
5	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
6	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
7	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
8	chr2:188214600-188257800	Weak transcription	Ovary	ovary
9	chr2:188215000-188224600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:188215600-188225200	Weak transcription	Esophagus	oesophagus
11	chr2:188216200-188229000	Weak transcription	Fetal Intestine Large	intestine
12	chr2:188219400-188225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:188219600-188224200	Weak transcription	Lung	lung
14	chr2:188220200-188222800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:188220200-188224400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:188220200-188224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:188221200-188223600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:188221800-188223200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:188221800-188223600	Strong transcription	Fetal Kidney	kidney
20	chr2:188222400-188223800	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:188222400-188225800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:188222600-188223000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:188222600-188223000	Strong transcription	Fetal Stomach	stomach
24	chr2:188222600-188223600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:188222600-188223600	Strong transcription	HUVEC	blood vessel
26	chr2:188222600-188223800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:188222600-188223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:188222600-188223800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:188222600-188225000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:188222600-188225800	Strong transcription	Adipose Nuclei	Adipose
31	chr2:188222800-188223800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:188223000-188236800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:188223000-188255200	Weak transcription	Fetal Stomach	stomach
34	chr2:188223200-188223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:188223200-188223800	Strong transcription	Left Ventricle	heart

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