Variant report

Variant	esv3423261
Chromosome Location	chr2:182592320-182592873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182590897..182592502-chr2:182592723..182595425,2	MCF-7	breast:
2	chr2:182591443..182593289-chr2:182756242..182757768,2	MCF-7	breast:
3	chr2:182590897..182592502-chr2:182592723..182595425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	chromatin interactions
ENSG00000138434	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75059721	chr2:182592383-182592384	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113396904	chr2:182592405-182592406	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs80098192	chr2:182592407-182592408	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531957650	chr2:182592408-182592409	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs62192065	chr2:182592456-182592457	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs71405464	chr2:182592461-182592462	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548739823	chr2:182592489-182592490	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568347173	chr2:182592529-182592530	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528874284	chr2:182592534-182592535	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527349266	chr2:182592594-182592595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528073781	chr2:182592611-182592612	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200064065	chr2:182592612-182592613	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547916721	chr2:182592620-182592621	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547108417	chr2:182592639-182592640	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567946111	chr2:182592711-182592712	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536948692	chr2:182592754-182592755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570069652	chr2:182592755-182592756	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs2696356	chr2:182592756-182592757	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145280176	chr2:182592781-182592782	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192662246	chr2:182592805-182592806	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76953095	chr2:182592830-182592831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555587517	chr2:182592831-182592832	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147649432	chr2:182592833-182592834	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114456588	chr2:182592841-182592842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558989128	chr2:182592866-182592867	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374355126	chr2:182592872-182592873	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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