Variant report

Variant	esv2218789
Chromosome Location	chr2:205577923-205578321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557374091	chr2:205577931-205577932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76586091	chr2:205578001-205578002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138854471	chr2:205578007-205578008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs41482445	chr2:205578015-205578016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546150796	chr2:205578018-205578019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540421930	chr2:205578045-205578046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538452262	chr2:205578053-205578054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558841671	chr2:205578056-205578057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544175417	chr2:205578085-205578086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116733033	chr2:205578089-205578090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114550714	chr2:205578094-205578095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568227873	chr2:205578097-205578098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547748564	chr2:205578101-205578102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566233012	chr2:205578117-205578118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527356007	chr2:205578133-205578134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547213193	chr2:205578134-205578135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79243561	chr2:205578138-205578139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57951921	chr2:205578206-205578207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557673257	chr2:205578207-205578208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142087392	chr2:205578212-205578213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76554477	chr2:205578247-205578248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554953260	chr2:205578264-205578265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146361679	chr2:205578279-205578280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181017055	chr2:205578282-205578283	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205569800-205580800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:205570000-205581800	Weak transcription	Ovary	ovary
4	chr2:205570600-205580400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:205570600-205582600	Weak transcription	Psoas Muscle	Psoas
6	chr2:205571400-205587800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:205572000-205582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:205572000-205592200	Weak transcription	Pancreas	Pancrea
9	chr2:205572200-205580200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:205572200-205580200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:205572200-205583600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:205572200-205587200	Weak transcription	HSMMtube	muscle
13	chr2:205572200-205590600	Weak transcription	Left Ventricle	heart
14	chr2:205572200-205596600	Weak transcription	HSMM	muscle
15	chr2:205572200-205597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:205574400-205580000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:205574600-205578400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:205576600-205580000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:205576800-205580400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:205577800-205578400	Weak transcription	Rectal Mucosa Donor 31	rectum

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