Variant report

Variant	esv11521
Chromosome Location	chr2:172908010-172910075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
2	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
3	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
4	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:
5	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:
6	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
7	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
8	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
9	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113700420	chr2:172908059-172908060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113970182	chr2:172908067-172908068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200293565	chr2:172908101-172908102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553018554	chr2:172908119-172908120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs80021850	chr2:172908148-172908149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143510434	chr2:172908169-172908170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78692251	chr2:172908249-172908250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77714475	chr2:172908282-172908283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553101740	chr2:172908289-172908290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146761856	chr2:172908293-172908294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs59067642	chr2:172908331-172908332	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148893389	chr2:172908333-172908334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574603737	chr2:172908428-172908429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544416553	chr2:172908462-172908463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143450196	chr2:172908466-172908467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62183826	chr2:172908490-172908491	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561266970	chr2:172908526-172908527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368453886	chr2:172908553-172908554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544582677	chr2:172908615-172908616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562696746	chr2:172908702-172908703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186537994	chr2:172908709-172908710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112972353	chr2:172908794-172908795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548442140	chr2:172908807-172908808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566760246	chr2:172908821-172908822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111500004	chr2:172908835-172908836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75698734	chr2:172908845-172908846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116969492	chr2:172908860-172908861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535276054	chr2:172908874-172908875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62183827	chr2:172908951-172908952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191194593	chr2:172908954-172908955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538315058	chr2:172908955-172908956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540171640	chr2:172908964-172908965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376727125	chr2:172909069-172909070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560426207	chr2:172909074-172909075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528461137	chr2:172909089-172909090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541863241	chr2:172909101-172909102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568841697	chr2:172909129-172909130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34108056	chr2:172909135-172909136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370351771	chr2:172909137-172909138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181636550	chr2:172909151-172909152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561844058	chr2:172909159-172909160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575419772	chr2:172909216-172909217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554886750	chr2:172909272-172909273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62183828	chr2:172909277-172909278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185933611	chr2:172909321-172909322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566719385	chr2:172909328-172909329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558823442	chr2:172909343-172909344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11885320	chr2:172909351-172909352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544330912	chr2:172909361-172909362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190777393	chr2:172909370-172909371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney

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