Variant report

Variant	esv3452794
Chromosome Location	chr1:247186232-247187122
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	chr1:247170972..247173397-chr1:247183946..247186810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197472	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192537117	chr1:247186232-247186233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531488502	chr1:247186239-247186240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548352562	chr1:247186246-247186247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182662557	chr1:247186254-247186255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527323235	chr1:247186257-247186258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6687412	chr1:247186259-247186260	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6684765	chr1:247186263-247186264	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201444538	chr1:247186280-247186281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113873237	chr1:247186286-247186287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552414852	chr1:247186287-247186288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187759429	chr1:247186307-247186308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192625708	chr1:247186318-247186319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554680959	chr1:247186319-247186320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568995798	chr1:247186337-247186338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184450370	chr1:247186338-247186339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377388163	chr1:247186350-247186351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189255708	chr1:247186351-247186352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540610983	chr1:247186383-247186384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554158121	chr1:247186393-247186394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370725958	chr1:247186418-247186419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577129013	chr1:247186424-247186425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546127652	chr1:247186440-247186441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192677230	chr1:247186479-247186480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576346629	chr1:247186483-247186484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111664891	chr1:247186484-247186485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561658477	chr1:247186494-247186495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527406548	chr1:247186527-247186528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540737645	chr1:247186535-247186536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2642981	chr1:247186541-247186542	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532722457	chr1:247186561-247186562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201439248	chr1:247186573-247186574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552497181	chr1:247186584-247186585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537594800	chr1:247186628-247186629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556006039	chr1:247186629-247186630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371802211	chr1:247186696-247186697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531817798	chr1:247186699-247186700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146415604	chr1:247186736-247186737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375980662	chr1:247186763-247186764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	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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