Variant report

Variant	nsv968579
Chromosome Location	chr9:72787163-72791525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr9:72787530-72787762	K562	blood:	n/a	chr9:72787638-72787656
2	MAFF	chr9:72787488-72787789	HepG2	liver:	n/a	chr9:72787638-72787656
3	MAFK	chr9:72787544-72787772	K562	blood:	n/a	chr9:72787639-72787654
4	MAFK	chr9:72787499-72787799	H1-hESC	embryonic stem cell:	n/a	chr9:72787639-72787654
5	MAFK	chr9:72787477-72787813	HepG2	liver:	n/a	chr9:72787639-72787654
6	MAFK	chr9:72787464-72787818	HepG2	liver:	n/a	chr9:72787639-72787654
7	MAFK	chr9:72787493-72787791	IMR90	lung:	n/a	chr9:72787639-72787654

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF9-1	chr9:72790671-72790804	ENSG00000204706.10
2	lnc-KLF9-1	chr9:72790671-72790748	ENSG00000204706.6
3	lnc-KLF9-1	chr9:72787476-72787781	ENSG00000204706.6
4	lnc-KLF9-1	chr9:72787476-72787683	ENSG00000204706.6
5	lnc-KLF9-1	chr9:72787476-72787804	ENSG00000204706.6
6	lnc-KLF9-1	chr9:72790671-72790799	ENSG00000204706.10
7	lnc-KLF9-1	chr9:72790671-72790804	ENSG00000204706.6
8	lnc-KLF9-1	chr9:72790671-72790804	NONHSAT131800
9	lnc-KLF9-1	chr9:72787476-72787781	ENSG00000204706.10

Variant related genes	Relation type
MAMDC2-AS1	TF binding region
NPM1	miRNA target sites

Extended variants
information (count: 145 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143585371	chr9:72787196-72787197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555598520	chr9:72787318-72787319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573702741	chr9:72787325-72787326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138047744	chr9:72787416-72787417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556279392	chr9:72787438-72787439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1927130	chr9:72787528-72787529	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142510018	chr9:72787535-72787536	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs185847660	chr9:72787557-72787558	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201747004	chr9:72787600-72787601	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs542953946	chr9:72787659-72787660	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs76219769	chr9:72787672-72787673	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146335026	chr9:72787713-72787714	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs200723783	chr9:72787724-72787725	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs139609022	chr9:72787769-72787770	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs549785642	chr9:72787770-72787771	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs564855325	chr9:72787816-72787817	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568555669	chr9:72787828-72787829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189468385	chr9:72787877-72787878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181753572	chr9:72787955-72787956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567062441	chr9:72788018-72788019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12685441	chr9:72788029-72788030	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147810929	chr9:72788087-72788088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549314371	chr9:72788105-72788106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567611582	chr9:72788116-72788117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186432837	chr9:72788120-72788121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1927131	chr9:72788193-72788194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78643059	chr9:72788198-72788199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111739088	chr9:72788231-72788232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1927132	chr9:72788251-72788252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539141316	chr9:72788303-72788304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190499773	chr9:72788308-72788309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182988585	chr9:72788309-72788310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185414705	chr9:72788317-72788318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553937626	chr9:72788318-72788319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372299333	chr9:72788322-72788323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1927133	chr9:72788372-72788373	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1927134	chr9:72788389-72788390	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573765873	chr9:72788403-72788404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12378229	chr9:72788425-72788426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543712211	chr9:72788462-72788463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564910914	chr9:72788492-72788493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183278241	chr9:72788639-72788640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144588865	chr9:72788641-72788642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377164321	chr9:72788642-72788643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541123230	chr9:72788654-72788655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142810297	chr9:72788691-72788692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527921369	chr9:72788718-72788719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115762505	chr9:72788777-72788778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187452359	chr9:72788808-72788809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192795163	chr9:72788843-72788844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
2	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
3	chr9:72759800-72792200	Weak transcription	HMEC	breast
4	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
5	chr9:72776800-72791800	Weak transcription	Fetal Lung	lung
6	chr9:72777000-72792400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:72777400-72789400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
9	chr9:72779200-72789600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:72779200-72792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:72780400-72796000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:72780400-72800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:72780600-72787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:72780600-72791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:72780800-72791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:72783000-72792000	Strong transcription	HSMMtube	muscle
19	chr9:72783600-72789800	Strong transcription	Colon Smooth Muscle	Colon
20	chr9:72783600-72792400	Weak transcription	Pancreas	Pancrea
21	chr9:72783600-72793600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:72783600-72794000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr9:72783800-72801600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:72784400-72793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:72784600-72802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:72785000-72791200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:72785200-72787800	Strong transcription	Adipose Nuclei	Adipose
28	chr9:72785200-72790400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:72785600-72789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:72785600-72794200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:72786000-72792200	Weak transcription	NH-A	brain
32	chr9:72786000-72792400	Weak transcription	Ovary	ovary
33	chr9:72786200-72787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:72786200-72787800	Weak transcription	HSMM	muscle
35	chr9:72786200-72792400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:72786400-72787200	Weak transcription	Left Ventricle	heart
37	chr9:72786400-72795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:72786400-72800400	Weak transcription	Aorta	Aorta
39	chr9:72786600-72790600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:72786600-72792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:72787200-72788200	Strong transcription	Left Ventricle	heart
42	chr9:72787600-72787800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:72787800-72790000	Weak transcription	Adipose Nuclei	Adipose
44	chr9:72787800-72791600	Strong transcription	HSMM	muscle
45	chr9:72788200-72794200	Weak transcription	Lung	lung
46	chr9:72788200-72800200	Weak transcription	Left Ventricle	heart
47	chr9:72789400-72790000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:72789400-72793200	Weak transcription	Gastric	stomach
49	chr9:72789600-72790400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:72789800-72792400	Weak transcription	Colon Smooth Muscle	Colon

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