Variant report

Variant	nsv892303
Chromosome Location	chr9:10054994-10099327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
2	chr9:10053198..10055670-chr9:10065089..10066974,2	K562	blood:
3	chr9:10053198..10055670-chr9:10065089..10066974,2	K562	blood:

Extended variants
information (count: 1321 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1321 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66683806	chr9:10054994-10054995	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568541445	chr9:10055002-10055003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71321220	chr9:10055007-10055008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs366864	chr9:10055016-10055017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547957078	chr9:10055052-10055053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370988456	chr9:10055065-10055066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146015961	chr9:10055076-10055077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35202310	chr9:10055092-10055093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139996168	chr9:10055106-10055107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192183108	chr9:10055133-10055134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570896424	chr9:10055149-10055150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554414514	chr9:10055169-10055170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530467297	chr9:10055182-10055183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143365417	chr9:10055183-10055184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535643095	chr9:10055194-10055195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184502353	chr9:10055240-10055241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546595391	chr9:10055248-10055249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553527691	chr9:10055256-10055257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571287532	chr9:10055257-10055258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576747315	chr9:10055291-10055292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34103601	chr9:10055324-10055325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545655891	chr9:10055336-10055337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562549984	chr9:10055368-10055369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145583369	chr9:10055389-10055390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs832234	chr9:10055437-10055438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562077340	chr9:10055443-10055444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189381998	chr9:10055460-10055461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548032803	chr9:10055463-10055464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1238503	chr9:10055485-10055486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115518870	chr9:10055497-10055498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533677101	chr9:10055509-10055510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550450669	chr9:10055515-10055516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570360213	chr9:10055516-10055517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149159171	chr9:10055536-10055537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554532222	chr9:10055577-10055578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184296107	chr9:10055595-10055596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189068370	chr9:10055596-10055597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181813881	chr9:10055624-10055625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536017259	chr9:10055630-10055631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73390268	chr9:10055664-10055665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370918007	chr9:10055675-10055676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553145373	chr9:10055683-10055684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566148575	chr9:10055689-10055690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576586039	chr9:10055700-10055701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62537260	chr9:10055729-10055730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151278757	chr9:10055732-10055733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375301377	chr9:10055762-10055763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34504428	chr9:10055785-10055786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187084033	chr9:10055795-10055796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562086771	chr9:10055801-10055802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10049400-10056000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:10050600-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:10050600-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:10052400-10055400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:10054400-10055000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr9:10054400-10055000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr9:10054400-10055000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr9:10054600-10055000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr9:10054600-10057400	Enhancers	Fetal Heart	heart
10	chr9:10054800-10055000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr9:10054800-10056000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:10055400-10056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:10056000-10056200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:10056000-10056800	Enhancers	HMEC	breast
15	chr9:10056000-10057000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:10056000-10057200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:10056000-10057600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:10056200-10060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:10056400-10056800	Enhancers	NHEK	skin
20	chr9:10056600-10056800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:10056600-10056800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:10056800-10058400	Weak transcription	HMEC	breast
23	chr9:10056800-10058400	Weak transcription	NHEK	skin
24	chr9:10057000-10058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:10057200-10058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:10057400-10059200	Weak transcription	Fetal Heart	heart
27	chr9:10057600-10058000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:10058000-10064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:10058200-10058400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:10058400-10059800	Enhancers	NHEK	skin
31	chr9:10058400-10060400	Enhancers	HMEC	breast
32	chr9:10058600-10059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:10058600-10059400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:10058600-10059600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:10058600-10060200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:10059000-10060200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:10059200-10059400	Enhancers	Fetal Heart	heart
38	chr9:10059200-10059600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:10059200-10059600	Enhancers	Fetal Lung	lung
40	chr9:10059400-10059600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:10059400-10059800	Weak transcription	Fetal Heart	heart
42	chr9:10059400-10062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:10059600-10060000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:10059600-10062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:10059600-10062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:10059800-10060200	Weak transcription	NHEK	skin
47	chr9:10059800-10061600	Enhancers	Fetal Heart	heart
48	chr9:10060000-10060200	Enhancers	Brain Anterior Caudate	brain
49	chr9:10060000-10060600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:10060200-10060400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links