Variant report

Variant	esv5188
Chromosome Location	chr2:173888883-173889444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73017592	chr2:173888908-173888909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2357952	chr2:173888925-173888926	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs367703381	chr2:173888940-173888941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13383192	chr2:173888943-173888944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5836398	chr2:173888947-173888948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202043288	chr2:173888948-173888949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2357953	chr2:173888949-173888950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4991217	chr2:173888950-173888951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200506826	chr2:173888952-173888953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530757047	chr2:173888963-173888964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58157989	chr2:173888969-173888970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187020828	chr2:173889007-173889008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11894771	chr2:173889038-173889039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537250946	chr2:173889106-173889107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555970614	chr2:173889107-173889108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574039225	chr2:173889122-173889123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530976985	chr2:173889147-173889148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559464326	chr2:173889166-173889167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577989269	chr2:173889188-173889189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10930574	chr2:173889197-173889198	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373669954	chr2:173889217-173889218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531490513	chr2:173889235-173889236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549998014	chr2:173889240-173889241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199802029	chr2:173889242-173889243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200622239	chr2:173889243-173889244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201681290	chr2:173889244-173889245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561959164	chr2:173889249-173889250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4972394	chr2:173889333-173889334	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12621641	chr2:173889363-173889364	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12618296	chr2:173889413-173889414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:44)

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
Intellectual disability	22102821	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
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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173877200-173901600	Weak transcription	Gastric	stomach
5	chr2:173880800-173891600	Strong transcription	Liver	Liver
6	chr2:173881200-173892400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:173883000-173892200	Weak transcription	Right Atrium	heart
10	chr2:173884800-173893000	Weak transcription	Right Ventricle	heart
11	chr2:173885400-173890800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:173885400-173892000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:173885400-173892600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:173886200-173890000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:173886800-173890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:173887000-173890000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:173887000-173891400	Weak transcription	Fetal Lung	lung
18	chr2:173887200-173889600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:173887200-173891800	Weak transcription	A549	lung
20	chr2:173887200-173892200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:173887200-173892400	Weak transcription	Hela-S3	cervix
22	chr2:173887200-173892600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:173887200-173893000	Weak transcription	Psoas Muscle	Psoas
24	chr2:173887400-173891400	Weak transcription	Fetal Heart	heart
25	chr2:173887400-173892000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:173887400-173894800	Weak transcription	Left Ventricle	heart
27	chr2:173888000-173892600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:173888400-173892000	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:173888600-173892200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:173888600-173892600	Weak transcription	Ovary	ovary
31	chr2:173888800-173892000	Weak transcription	Fetal Stomach	stomach
32	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:173888800-173906600	Weak transcription	Lung	lung

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