Variant report

Variant	esv3429037
Chromosome Location	chr2:205569635-205570228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147010350	chr2:205569665-205569666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547389376	chr2:205569676-205569677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139003030	chr2:205569678-205569679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78267226	chr2:205569680-205569681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551455007	chr2:205569725-205569726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569857690	chr2:205569756-205569757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536828513	chr2:205569781-205569782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202207002	chr2:205569802-205569803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115726367	chr2:205569814-205569815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372717285	chr2:205569819-205569820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77061387	chr2:205569933-205569934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553044648	chr2:205569969-205569970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192615504	chr2:205569976-205569977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545155209	chr2:205569989-205569990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563224070	chr2:205569990-205569991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7562459	chr2:205570023-205570024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185349787	chr2:205570038-205570039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374467327	chr2:205570072-205570073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559776054	chr2:205570082-205570083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150834352	chr2:205570085-205570086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111460798	chr2:205570106-205570107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547672696	chr2:205570110-205570111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139296597	chr2:205570142-205570143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533133981	chr2:205570157-205570158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551493954	chr2:205570164-205570165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113581676	chr2:205570187-205570188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112772856	chr2:205570223-205570224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205560800-205569800	Weak transcription	HSMM	muscle
3	chr2:205561000-205570200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205565600-205569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:205568200-205570400	Weak transcription	Psoas Muscle	Psoas
6	chr2:205569200-205569800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:205569400-205570800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:205569600-205569800	Enhancers	Fetal Kidney	kidney
9	chr2:205569600-205570200	Enhancers	Fetal Lung	lung
10	chr2:205569600-205570200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:205569600-205570600	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:205569600-205570800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:205569800-205570000	Enhancers	Ovary	ovary
14	chr2:205569800-205570400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:205569800-205570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:205569800-205570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:205569800-205570800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:205569800-205570800	Enhancers	HSMM	muscle
19	chr2:205569800-205570800	Enhancers	HSMMtube	muscle
20	chr2:205569800-205571600	Weak transcription	Fetal Kidney	kidney
21	chr2:205569800-205580800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:205570000-205570200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:205570000-205570600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:205570000-205570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:205570000-205581800	Weak transcription	Ovary	ovary
26	chr2:205570200-205570600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:205570200-205571400	Weak transcription	Fetal Lung	lung
28	chr2:205570200-205571800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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