Variant report

Variant	nsv972757
Chromosome Location	chr9:72832153-72833362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149393009	chr9:72832154-72832155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575454071	chr9:72832155-72832156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545913384	chr9:72832199-72832200	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34761167	chr9:72832216-72832217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573759958	chr9:72832235-72832236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377709662	chr9:72832268-72832269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577547454	chr9:72832290-72832291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577354173	chr9:72832295-72832296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183397420	chr9:72832297-72832298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370046241	chr9:72832301-72832302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560017045	chr9:72832302-72832303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530284859	chr9:72832310-72832311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548217234	chr9:72832324-72832325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542407249	chr9:72832341-72832342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554007523	chr9:72832417-72832418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146225661	chr9:72832423-72832424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552236964	chr9:72832424-72832425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570574615	chr9:72832515-72832516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534838052	chr9:72832524-72832525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563607390	chr9:72832538-72832539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187486376	chr9:72832559-72832560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543127219	chr9:72832625-72832626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74659674	chr9:72832626-72832627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557044826	chr9:72832636-72832637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2148857	chr9:72832640-72832641	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138640894	chr9:72832671-72832672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539577862	chr9:72832729-72832730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557903979	chr9:72832737-72832738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117359146	chr9:72832922-72832923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541617325	chr9:72832942-72832943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137934341	chr9:72832978-72832979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575124237	chr9:72832981-72832982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1927095	chr9:72833007-72833008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542094349	chr9:72833051-72833052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77501100	chr9:72833057-72833058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35056164	chr9:72833117-72833118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530828634	chr9:72833177-72833178	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112567428	chr9:72833191-72833192	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59589820	chr9:72833203-72833204	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552122546	chr9:72833207-72833208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564605230	chr9:72833214-72833215	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377255104	chr9:72833272-72833273	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373309195	chr9:72833303-72833304	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376584157	chr9:72833304-72833305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142380496	chr9:72833310-72833311	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369144017	chr9:72833313-72833314	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138529706	chr9:72833358-72833359	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72809600-72837800	Weak transcription	NH-A	brain
3	chr9:72820800-72835400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:72821200-72844800	Weak transcription	HMEC	breast
5	chr9:72825600-72833200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:72826000-72833200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:72827600-72833800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:72827600-72834000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:72827600-72843200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:72827800-72833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:72827800-72833400	Weak transcription	Osteobl	bone
12	chr9:72827800-72841600	Weak transcription	Placenta	Placenta
13	chr9:72828000-72833200	Weak transcription	Fetal Stomach	stomach
14	chr9:72828000-72833200	Weak transcription	Left Ventricle	heart
15	chr9:72828000-72833400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:72828000-72836600	Weak transcription	Right Ventricle	heart
17	chr9:72828000-72837000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:72828000-72844000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72828000-72858800	Weak transcription	Gastric	stomach
20	chr9:72828200-72833200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:72828200-72833400	Weak transcription	Fetal Kidney	kidney
22	chr9:72828200-72835400	Weak transcription	Adipose Nuclei	Adipose
23	chr9:72828200-72835400	Weak transcription	Small Intestine	intestine
24	chr9:72828200-72843200	Weak transcription	Fetal Lung	lung
25	chr9:72828200-72844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:72828600-72837200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:72828600-72843000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:72829000-72841800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:72829400-72833200	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:72829400-72835200	Weak transcription	Psoas Muscle	Psoas
31	chr9:72829600-72839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:72829600-72843400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:72829800-72833200	Weak transcription	NHDF-Ad	bronchial
34	chr9:72830200-72834200	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:72830200-72836200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:72830200-72836600	Weak transcription	Pancreas	Pancrea
37	chr9:72830200-72837200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:72830200-72837200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr9:72830800-72833400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:72830800-72845200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:72831400-72833200	Weak transcription	HSMMtube	muscle
42	chr9:72831400-72836800	Weak transcription	Brain Angular Gyrus	brain
43	chr9:72831600-72833400	Weak transcription	Liver	Liver
44	chr9:72831600-72833400	Weak transcription	HSMM	muscle
45	chr9:72831600-72835200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:72831600-72841000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:72831800-72832200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr9:72831800-72832400	Strong transcription	Lung	lung
49	chr9:72831800-72832400	Enhancers	Ovary	ovary
50	chr9:72831800-72833200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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