Variant report

Variant	esv3524175
Chromosome Location	chr2:173002605-173009327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172999674..173002716-chr2:173011251..173014037,3	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187745052	chr2:173002640-173002641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74937629	chr2:173002670-173002671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78295709	chr2:173002671-173002672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528860691	chr2:173002702-173002703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541003132	chr2:173002804-173002805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559590769	chr2:173002839-173002840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533007217	chr2:173002845-173002846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114275429	chr2:173002875-173002876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561092387	chr2:173002926-173002927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569477198	chr2:173002931-173002932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192581946	chr2:173002964-173002965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535100177	chr2:173002966-173002967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549435679	chr2:173002971-173002972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530185301	chr2:173002991-173002992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77692086	chr2:173003044-173003045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112883021	chr2:173003052-173003053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553434811	chr2:173003055-173003056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546472084	chr2:173003067-173003068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189108875	chr2:173003126-173003127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539300566	chr2:173003145-173003146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192795987	chr2:173003160-173003161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74397422	chr2:173003247-173003248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543184187	chr2:173003353-173003354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555426072	chr2:173003354-173003355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532863561	chr2:173003355-173003356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184562940	chr2:173003368-173003369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559041170	chr2:173003378-173003379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533071635	chr2:173003379-173003380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188585517	chr2:173003406-173003407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563170512	chr2:173003462-173003463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141774582	chr2:173003477-173003478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549249146	chr2:173003546-173003547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2357318	chr2:173003548-173003549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151117208	chr2:173003555-173003556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546983671	chr2:173003576-173003577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141095760	chr2:173003609-173003610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539365082	chr2:173003630-173003631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551277325	chr2:173003645-173003646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2129479	chr2:173003646-173003647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181422999	chr2:173003651-173003652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531239129	chr2:173003654-173003655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548305978	chr2:173003681-173003682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555219242	chr2:173003683-173003684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138804170	chr2:173003690-173003691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534385266	chr2:173003698-173003699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552570694	chr2:173003754-173003755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4972427	chr2:173003763-173003764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2171321	chr2:173003773-173003774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4972636	chr2:173003783-173003784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4972429	chr2:173003922-173003923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:11 , 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
7	chr2:173008800-173009000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:173008800-173009200	Enhancers	Brain Germinal Matrix	brain
9	chr2:173009000-173009200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:173009200-173010400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:173009200-173012800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links