Variant report

Variant	nsv511188
Chromosome Location	chr2:173001058-173006031
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: 162 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs182971273	chr2:173001849-173001850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149668194	chr2:173001871-173001872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6735574	chr2:173001874-173001875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114329980	chr2:173001898-173001899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559717852	chr2:173002037-173002038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578105696	chr2:173002094-173002095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545946304	chr2:173002099-173002100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145460382	chr2:173002115-173002116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531380078	chr2:173002130-173002131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549808128	chr2:173002142-173002143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537290974	chr2:173002167-173002168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561687448	chr2:173002168-173002169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529192959	chr2:173002172-173002173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74360255	chr2:173002210-173002211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35627950	chr2:173002213-173002214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537598882	chr2:173002214-173002215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541929368	chr2:173002215-173002216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56282600	chr2:173002223-173002224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138930534	chr2:173002240-173002241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377659663	chr2:173002246-173002247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565765291	chr2:173002292-173002293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532945563	chr2:173002313-173002314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551502138	chr2:173002314-173002315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7585949	chr2:173002392-173002393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139604196	chr2:173002398-173002399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11885116	chr2:173002403-173002404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191957073	chr2:173002415-173002416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577223873	chr2:173002417-173002418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535033637	chr2:173002429-173002430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183060309	chr2:173002434-173002435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565258747	chr2:173002447-173002448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145115603	chr2:173002490-173002491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563644226	chr2:173002505-173002506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374637592	chr2:173002507-173002508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12468831	chr2:173002541-173002542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147937991	chr2:173002563-173002564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56140108	chr2:173002580-173002581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187745052	chr2:173002640-173002641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74937629	chr2:173002670-173002671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78295709	chr2:173002671-173002672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528860691	chr2:173002702-173002703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541003132	chr2:173002804-173002805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559590769	chr2:173002839-173002840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533007217	chr2:173002845-173002846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114275429	chr2:173002875-173002876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561092387	chr2:173002926-173002927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569477198	chr2:173002931-173002932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192581946	chr2:173002964-173002965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535100177	chr2:173002966-173002967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549435679	chr2:173002971-173002972	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173001800-173002200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173002200-173012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173004400-173007200	Weak transcription	Fetal Brain Male	brain

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