Variant report

Variant	nsv821794
Chromosome Location	chr2:172906446-172910170
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172909513..172911907-chr2:172948039..172950967,2	MCF-7	breast:
2	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
3	chr2:172903157..172907693-chr2:172948761..172951309,4	MCF-7	breast:
4	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
5	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
6	chr2:172910103..172911798-chr2:172947544..172950259,2	MCF-7	breast:
7	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
8	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
9	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
10	chr2:172906506..172908883-chr2:172947128..172949722,2	MCF-7	breast:
11	chr2:172904432..172906257-chr2:172909270..172911024,2	K562	blood:
12	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
13	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144355	chromatin interactions

Extended variants
information (count: 271 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141679213	chr2:172906447-172906448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568280966	chr2:172906481-172906482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79566964	chr2:172906482-172906483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144486551	chr2:172906513-172906514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148357409	chr2:172906529-172906530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199557221	chr2:172906638-172906639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374556567	chr2:172906645-172906646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368549764	chr2:172906653-172906654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201300486	chr2:172906657-172906658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199777185	chr2:172906659-172906660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200821659	chr2:172906660-172906661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371484938	chr2:172906661-172906662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571543320	chr2:172906673-172906674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs67708838	chr2:172906677-172906678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201757401	chr2:172906724-172906725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141532184	chr2:172906745-172906746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112892047	chr2:172906814-172906815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12470411	chr2:172906818-172906819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111693029	chr2:172906935-172906936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545516380	chr2:172906961-172906962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539505716	chr2:172907004-172907005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558134996	chr2:172907008-172907009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79029608	chr2:172907025-172907026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199500469	chr2:172907031-172907032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112569881	chr2:172907039-172907040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182087899	chr2:172907071-172907072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140200198	chr2:172907073-172907074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199956496	chr2:172907077-172907078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200549158	chr2:172907080-172907081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541963778	chr2:172907087-172907088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186726758	chr2:172907101-172907102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201912983	chr2:172907103-172907104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530789753	chr2:172907107-172907108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527386941	chr2:172907109-172907110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550913394	chr2:172907110-172907111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369758657	chr2:172907112-172907113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376179174	chr2:172907116-172907117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564397123	chr2:172907117-172907118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564126029	chr2:172907121-172907122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531192845	chr2:172907125-172907126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532519287	chr2:172907129-172907130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568011157	chr2:172907130-172907131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529092652	chr2:172907131-172907132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200063926	chr2:172907133-172907134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552328798	chr2:172907139-172907140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566162243	chr2:172907141-172907142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140614599	chr2:172907143-172907144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539565366	chr2:172907144-172907145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534809100	chr2:172907147-172907148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570064405	chr2:172907153-172907154	Weak transcription	Chromatin interactive region	1 gene(s)	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
2	chr2:172907400-172907800	ZNF genes & repeats	Fetal Kidney	kidney
3	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney

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