Variant report

Variant	esv3525882
Chromosome Location	chr1:247185029-247188227
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: 100 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550808788	chr1:247185034-247185035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190968147	chr1:247185095-247185096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573346652	chr1:247185116-247185117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368066080	chr1:247185133-247185134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545176077	chr1:247185135-247185136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373329925	chr1:247185142-247185143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371569772	chr1:247185149-247185150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182754093	chr1:247185187-247185188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544187067	chr1:247185201-247185202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80019469	chr1:247185219-247185220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139106536	chr1:247185223-247185224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71638377	chr1:247185248-247185249	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11410693	chr1:247185249-247185250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11374457	chr1:247185255-247185256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149912935	chr1:247185321-247185322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532285114	chr1:247185326-247185327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113956967	chr1:247185339-247185340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144941108	chr1:247185351-247185352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374028954	chr1:247185352-247185353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554581832	chr1:247185365-247185366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568032600	chr1:247185377-247185378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536554287	chr1:247185412-247185413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577992411	chr1:247185443-247185444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6694946	chr1:247185476-247185477	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs76343707	chr1:247185498-247185499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545575120	chr1:247185499-247185500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558663525	chr1:247185523-247185524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575315833	chr1:247185544-247185545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530594536	chr1:247185560-247185561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148623355	chr1:247185566-247185567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143114436	chr1:247185587-247185588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574449825	chr1:247185645-247185646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540157509	chr1:247185646-247185647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190103090	chr1:247185684-247185685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532244689	chr1:247185707-247185708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6426204	chr1:247185759-247185760	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562598331	chr1:247185771-247185772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531455682	chr1:247185779-247185780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548272146	chr1:247185791-247185792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528364510	chr1:247185792-247185793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140375676	chr1:247185824-247185825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11313218	chr1:247185843-247185844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533780066	chr1:247185907-247185908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561279838	chr1:247185927-247185928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567137641	chr1:247185965-247185966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370812374	chr1:247185970-247185971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77833143	chr1:247185980-247185981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575400971	chr1:247186033-247186034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537961120	chr1:247186035-247186036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145474346	chr1:247186058-247186059	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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