Variant report

Variant	nsv525490
Chromosome Location	chr2:172453700-172454933
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	chr2:172443186..172445133-chr2:172451664..172453720,2	K562	blood:
2	chr2:172454209..172457044-chr2:172571141..172573301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077380	chromatin interactions
ENSG00000233934	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11685214	chr2:172453700-172453701	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544854107	chr2:172453744-172453745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566485283	chr2:172453771-172453772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74910764	chr2:172453797-172453798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189538067	chr2:172453819-172453820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576608771	chr2:172453825-172453826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544051188	chr2:172453826-172453827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556609358	chr2:172453827-172453828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73024996	chr2:172453832-172453833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542310300	chr2:172453860-172453861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560256712	chr2:172453863-172453864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564780659	chr2:172453885-172453886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4667691	chr2:172453992-172453993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs564797507	chr2:172454000-172454001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531938013	chr2:172454060-172454061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180673215	chr2:172454079-172454080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559504556	chr2:172454097-172454098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185337497	chr2:172454117-172454118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189328392	chr2:172454232-172454233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147723347	chr2:172454297-172454298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs386652713	chr2:172454319-172454320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181317503	chr2:172454320-172454321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570451803	chr2:172454323-172454324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537755517	chr2:172454337-172454338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556035499	chr2:172454358-172454359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574593451	chr2:172454365-172454366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564022538	chr2:172454371-172454372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186476565	chr2:172454385-172454386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554276345	chr2:172454393-172454394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572447858	chr2:172454429-172454430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546266018	chr2:172454431-172454432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564482677	chr2:172454506-172454507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576764284	chr2:172454514-172454515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367834137	chr2:172454538-172454539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11685560	chr2:172454540-172454541	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142573377	chr2:172454557-172454558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547958493	chr2:172454589-172454590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560242363	chr2:172454613-172454614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527284278	chr2:172454688-172454689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191770690	chr2:172454725-172454726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114404642	chr2:172454781-172454782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528978862	chr2:172454803-172454804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28795170	chr2:172454846-172454847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72885986	chr2:172454884-172454885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550062400	chr2:172454919-172454920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6745725	chr2:172454933-172454934	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172452400-172454800	Weak transcription	Adipose Nuclei	Adipose
2	chr2:172452800-172455600	Weak transcription	HMEC	breast
3	chr2:172453000-172454800	Weak transcription	NHLF	lung
4	chr2:172453000-172455200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:172453000-172455600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:172453000-172455600	Weak transcription	A549	lung
7	chr2:172453000-172455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172453200-172455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:172453200-172455600	Weak transcription	NHDF-Ad	bronchial
10	chr2:172453200-172455800	Weak transcription	NHEK	skin

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