Variant report

Variant	esv3386960
Chromosome Location	chr2:173003556-173008504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546983671	chr2:173003576-173003577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141095760	chr2:173003609-173003610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539365082	chr2:173003630-173003631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551277325	chr2:173003645-173003646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2129479	chr2:173003646-173003647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181422999	chr2:173003651-173003652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531239129	chr2:173003654-173003655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548305978	chr2:173003681-173003682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555219242	chr2:173003683-173003684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138804170	chr2:173003690-173003691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534385266	chr2:173003698-173003699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552570694	chr2:173003754-173003755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4972427	chr2:173003763-173003764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2171321	chr2:173003773-173003774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4972636	chr2:173003783-173003784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4972429	chr2:173003922-173003923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539702077	chr2:173003969-173003970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113674195	chr2:173003975-173003976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76131608	chr2:173003990-173003991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528603842	chr2:173004000-173004001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546751301	chr2:173004008-173004009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185956747	chr2:173004030-173004031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532537774	chr2:173004031-173004032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371314706	chr2:173004099-173004100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541068701	chr2:173004100-173004101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536499472	chr2:173004178-173004179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142066702	chr2:173004207-173004208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76594310	chr2:173004224-173004225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566922368	chr2:173004226-173004227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78505568	chr2:173004227-173004228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201261357	chr2:173004233-173004234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369108005	chr2:173004238-173004239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79648668	chr2:173004239-173004240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577258428	chr2:173004240-173004241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538241030	chr2:173004264-173004265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556489408	chr2:173004265-173004266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575502770	chr2:173004269-173004270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542525339	chr2:173004273-173004274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561160366	chr2:173004274-173004275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572932340	chr2:173004287-173004288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79886888	chr2:173004317-173004318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78550885	chr2:173004326-173004327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532598667	chr2:173004334-173004335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117050214	chr2:173004419-173004420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77107098	chr2:173004443-173004444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530443206	chr2:173004557-173004558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189054564	chr2:173004565-173004566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182044090	chr2:173004613-173004614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527869062	chr2:173004620-173004621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546335274	chr2:173004621-173004622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Cancer	20164919	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
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173002200-173012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173004400-173007200	Weak transcription	Fetal Brain Male	brain
3	chr2:173006400-173006800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:173006600-173007000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:173006600-173012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173006800-173010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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