Variant report

Variant	esv3397197
Chromosome Location	chr9:72298160-72299128
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	chr9:72286480..72288672-chr9:72297057..72299109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261447	chromatin interactions
ENSG00000107282	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116129702	chr9:72298203-72298204	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546122651	chr9:72298224-72298225	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185852184	chr9:72298225-72298226	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528096553	chr9:72298305-72298306	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55935462	chr9:72298318-72298319	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528981852	chr9:72298330-72298331	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs56282813	chr9:72298333-72298334	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189776235	chr9:72298339-72298340	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570270753	chr9:72298357-72298358	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376254287	chr9:72298400-72298401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182395366	chr9:72298445-72298446	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368928632	chr9:72298480-72298481	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140980957	chr9:72298506-72298507	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535035646	chr9:72298526-72298527	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537294584	chr9:72298549-72298550	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553477456	chr9:72298589-72298590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs61068557	chr9:72298670-72298671	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535990891	chr9:72298672-72298673	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374820490	chr9:72298687-72298688	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376927175	chr9:72298696-72298697	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372674089	chr9:72298727-72298728	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575395889	chr9:72298857-72298858	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77282515	chr9:72298864-72298865	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs61509447	chr9:72298886-72298887	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560547242	chr9:72298914-72298915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372030753	chr9:72298951-72298952	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572476857	chr9:72298954-72298955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576988596	chr9:72298962-72298963	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185393549	chr9:72298990-72298991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561380171	chr9:72298994-72298995	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546201629	chr9:72299001-72299002	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191845928	chr9:72299037-72299038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550309047	chr9:72299080-72299081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563684165	chr9:72299103-72299104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	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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