Variant report

Variant	nsv968705
Chromosome Location	chr9:71666410-71668674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71666774..71669833-chr9:71734752..71737934,3	MCF-7	breast:
2	chr9:71659255..71662171-chr9:71666375..71668806,2	K562	blood:
3	chr9:71661053..71663941-chr9:71667266..71670111,2	K562	blood:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions
ENSG00000165060	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530922580	chr9:71666440-71666441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541395357	chr9:71666488-71666489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530011520	chr9:71666491-71666492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550921629	chr9:71666517-71666518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186514163	chr9:71666554-71666555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537747518	chr9:71666643-71666644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145356593	chr9:71666688-71666689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149201840	chr9:71666731-71666732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561605018	chr9:71666762-71666763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79490757	chr9:71666785-71666786	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548952952	chr9:71666795-71666796	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373600092	chr9:71666804-71666805	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552620561	chr9:71666817-71666818	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2481600	chr9:71666851-71666852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145105781	chr9:71666894-71666895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557221555	chr9:71666923-71666924	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575493752	chr9:71666926-71666927	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146704514	chr9:71666952-71666953	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564306711	chr9:71666974-71666975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573047787	chr9:71666981-71666982	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551624325	chr9:71666990-71666991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559550553	chr9:71667008-71667009	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530112108	chr9:71667043-71667044	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200801809	chr9:71667066-71667067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148596837	chr9:71667078-71667079	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34185166	chr9:71667079-71667080	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146804510	chr9:71667080-71667081	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541905701	chr9:71667092-71667093	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563691776	chr9:71667093-71667094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531144244	chr9:71667127-71667128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190844766	chr9:71667164-71667165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368826214	chr9:71667196-71667197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570732305	chr9:71667213-71667214	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528626546	chr9:71667230-71667231	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546684014	chr9:71667315-71667316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568016884	chr9:71667371-71667372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535529497	chr9:71667381-71667382	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78606772	chr9:71667474-71667475	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs56938732	chr9:71667476-71667477	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79644366	chr9:71667477-71667478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112322425	chr9:71667479-71667480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375500744	chr9:71667498-71667499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568818014	chr9:71667521-71667522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539770422	chr9:71667528-71667529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558051650	chr9:71667550-71667551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573084529	chr9:71667553-71667554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533971803	chr9:71667560-71667561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565499074	chr9:71667607-71667608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555538162	chr9:71667615-71667616	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574879885	chr9:71667619-71667620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
2	chr9:71652000-71672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:71652000-71680600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:71652000-71680800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71656600-71669800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:71658000-71670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
8	chr9:71659800-71683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:71659800-71683000	Weak transcription	Psoas Muscle	Psoas
10	chr9:71659800-71685200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:71660000-71669000	Weak transcription	Stomach Mucosa	stomach
12	chr9:71660000-71669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:71660000-71669800	Weak transcription	Hela-S3	cervix
14	chr9:71660000-71672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:71660000-71679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:71660000-71680800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:71660000-71682000	Weak transcription	NHLF	lung
18	chr9:71660000-71684400	Weak transcription	Small Intestine	intestine
19	chr9:71660000-71689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:71661000-71675600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:71661200-71684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr9:71662000-71671200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr9:71662000-71679800	Weak transcription	Fetal Kidney	kidney
24	chr9:71662400-71675400	Weak transcription	Fetal Heart	heart
25	chr9:71662600-71672600	Weak transcription	HSMM	muscle
26	chr9:71662800-71670000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:71662800-71686400	Weak transcription	Fetal Brain Female	brain
28	chr9:71663200-71670200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:71663600-71671000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:71664000-71674600	Weak transcription	HUVEC	blood vessel
31	chr9:71664000-71675400	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:71664000-71675600	Weak transcription	Brain Substantia Nigra	brain
33	chr9:71664000-71675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:71664000-71682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:71664200-71669600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:71664200-71669800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:71664200-71671000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:71664200-71671200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:71664200-71672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:71664200-71672600	Weak transcription	NHEK	skin
41	chr9:71664200-71675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:71664200-71679400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:71664200-71680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:71664200-71681400	Weak transcription	Right Ventricle	heart
45	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:71664400-71667400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:71664400-71668000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:71664400-71668000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr9:71664400-71668000	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:71664400-71668200	Weak transcription	Fetal Lung	lung

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