Variant report

Variant	nsv892305
Chromosome Location	chr9:10061872-10123735
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	chr9:10053198..10055670-chr9:10065089..10066974,2	K562	blood:

Extended variants
information (count: 1764 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs446874	chr9:10061872-10061873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193076231	chr9:10061877-10061878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563392221	chr9:10061891-10061892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140466584	chr9:10061898-10061899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549180902	chr9:10061910-10061911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559709065	chr9:10061921-10061922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528366432	chr9:10061924-10061925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551768350	chr9:10061952-10061953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571509616	chr9:10061964-10061965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369816130	chr9:10061977-10061978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185033558	chr9:10062015-10062016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146011035	chr9:10062028-10062029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386732506	chr9:10062029-10062030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59052640	chr9:10062030-10062031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200233297	chr9:10062033-10062034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552713384	chr9:10062037-10062038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398046428	chr9:10062038-10062039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536477796	chr9:10062039-10062040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553123286	chr9:10062047-10062048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189516487	chr9:10062066-10062067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538924775	chr9:10062078-10062079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73641835	chr9:10062100-10062101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115912115	chr9:10062101-10062102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569454346	chr9:10062139-10062140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368823306	chr9:10062171-10062172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375665	chr9:10062184-10062185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73641836	chr9:10062194-10062195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550080378	chr9:10062205-10062206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180692683	chr9:10062212-10062213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375803981	chr9:10062219-10062220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542861984	chr9:10062239-10062240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559554250	chr9:10062246-10062247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554880169	chr9:10062247-10062248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185317354	chr9:10062260-10062261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528403731	chr9:10062279-10062280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551339141	chr9:10062281-10062282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565181618	chr9:10062284-10062285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188655158	chr9:10062340-10062341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550931985	chr9:10062364-10062365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567443564	chr9:10062379-10062380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536313639	chr9:10062417-10062418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369365632	chr9:10062433-10062434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569964922	chr9:10062451-10062452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371008480	chr9:10062457-10062458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566679143	chr9:10062466-10062467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373340026	chr9:10062499-10062500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559025900	chr9:10062518-10062519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575876193	chr9:10062531-10062532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12237354	chr9:10062536-10062537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376706412	chr9:10062585-10062586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10058000-10064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:10059400-10062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:10059600-10062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:10059600-10062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:10060200-10062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:10060200-10062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:10060200-10063000	Enhancers	HUVEC	blood vessel
8	chr9:10060400-10062400	Weak transcription	HMEC	breast
9	chr9:10060400-10062400	Weak transcription	NHEK	skin
10	chr9:10061400-10063000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:10061600-10062600	Weak transcription	Fetal Heart	heart
12	chr9:10062200-10062800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:10062400-10063000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:10062400-10063000	Enhancers	HMEC	breast
15	chr9:10062400-10063200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:10062400-10063200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:10062400-10063200	Enhancers	NHEK	skin
18	chr9:10062600-10062800	Enhancers	Fetal Heart	heart
19	chr9:10062600-10063200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:10062800-10064000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:10063000-10063600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:10068600-10069400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:10068800-10069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:10074000-10074800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:10074600-10075200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:10079000-10080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:10079000-10080600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:10079000-10080600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:10079000-10080600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:10079200-10079800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:10079200-10080400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:10079200-10080600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:10079200-10080600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:10079400-10079800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr9:10079400-10080400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:10079400-10080400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:10079600-10080400	Enhancers	Fetal Brain Female	brain
38	chr9:10080000-10080800	Enhancers	Fetal Heart	heart
39	chr9:10085600-10085800	ZNF genes & repeats	Aorta	Aorta
40	chr9:10085800-10096000	Weak transcription	Aorta	Aorta
41	chr9:10096000-10096200	Active TSS	Aorta	Aorta
42	chr9:10104600-10105400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:10104800-10105000	Enhancers	Fetal Brain Female	brain
44	chr9:10105400-10107000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:10107000-10107200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr9:10107200-10107400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:10107400-10108000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:10107600-10108800	Weak transcription	Fetal Brain Female	brain
49	chr9:10108000-10111600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:10108200-10109000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links