Variant report

Variant	esv2761282
Chromosome Location	chr9:72147208-72149475
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	chr9:72085073..72087680-chr9:72148293..72150316,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229312	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4744908	chr9:72147208-72147209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1888834	chr9:72147277-72147278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575518650	chr9:72147315-72147316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546221004	chr9:72147341-72147342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187255475	chr9:72147360-72147361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369410193	chr9:72147361-72147362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558078421	chr9:72147425-72147426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573119567	chr9:72147530-72147531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35102870	chr9:72147541-72147542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539831995	chr9:72147566-72147567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117446068	chr9:72147583-72147584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559778883	chr9:72147623-72147624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528953708	chr9:72147624-72147625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1412243	chr9:72147700-72147701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140177943	chr9:72147704-72147705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562285226	chr9:72147733-72147734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114889616	chr9:72147824-72147825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368806427	chr9:72147846-72147847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552382280	chr9:72147863-72147864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370864189	chr9:72148012-72148013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373467358	chr9:72148018-72148019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548376233	chr9:72148024-72148025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7047649	chr9:72148031-72148032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528799810	chr9:72148084-72148085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143849116	chr9:72148115-72148116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568447551	chr9:72148250-72148251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568665791	chr9:72148333-72148334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192128598	chr9:72148432-72148433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373976750	chr9:72148439-72148440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569418877	chr9:72148448-72148449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539618745	chr9:72148461-72148462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184556042	chr9:72148490-72148491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7851858	chr9:72148492-72148493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188445516	chr9:72148512-72148513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192271897	chr9:72148541-72148542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13286400	chr9:72148579-72148580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375975231	chr9:72148590-72148591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543852278	chr9:72148629-72148630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562223429	chr9:72148633-72148634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532898022	chr9:72148654-72148655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3925455	chr9:72148665-72148666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539699572	chr9:72148676-72148677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146349371	chr9:72148682-72148683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139209437	chr9:72148696-72148697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78539924	chr9:72148713-72148714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373803851	chr9:72148717-72148718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113342645	chr9:72148718-72148719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529298550	chr9:72148752-72148753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575467136	chr9:72148771-72148772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375082844	chr9:72148872-72148873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72132200-72163000	Weak transcription	Aorta	Aorta
2	chr9:72141800-72158200	Weak transcription	Ovary	ovary
3	chr9:72143600-72158400	Weak transcription	Liver	Liver
4	chr9:72146600-72157000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:72147200-72147600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:72147200-72147800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:72147400-72147600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:72147400-72147600	Enhancers	Pancreas	Pancrea
9	chr9:72147400-72147800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:72147400-72147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:72147400-72147800	Enhancers	Right Ventricle	heart
12	chr9:72147600-72148000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:72147600-72148000	Enhancers	Fetal Heart	heart
14	chr9:72147600-72158200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:72147800-72150200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:72147800-72150400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:72147800-72152200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:72148000-72148400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:72148400-72148600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:72148600-72157000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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