Variant report

Variant	nsv613685
Chromosome Location	chr9:16884293-16887073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7850402	chr9:16884293-16884294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368585931	chr9:16884321-16884322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573364732	chr9:16884338-16884339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187160826	chr9:16884359-16884360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147020339	chr9:16884361-16884362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147613493	chr9:16884372-16884373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574008795	chr9:16884391-16884392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544301519	chr9:16884439-16884440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565246351	chr9:16884496-16884497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562538340	chr9:16884528-16884529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs117194944	chr9:16884553-16884554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545674322	chr9:16884571-16884572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140849520	chr9:16884573-16884574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189439343	chr9:16884574-16884575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10810657	chr9:16884586-16884587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113863780	chr9:16884589-16884590	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528997684	chr9:16884598-16884599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182038835	chr9:16884602-16884603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185235306	chr9:16884603-16884604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150105727	chr9:16884651-16884652	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs367575089	chr9:16884654-16884655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551378737	chr9:16884665-16884666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12683784	chr9:16884679-16884680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534516711	chr9:16884731-16884732	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138500051	chr9:16884745-16884746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530253573	chr9:16884776-16884777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115860057	chr9:16884793-16884794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148812174	chr9:16884794-16884795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556271147	chr9:16884843-16884844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577590742	chr9:16884850-16884851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189942801	chr9:16884859-16884860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560547604	chr9:16884868-16884869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374893591	chr9:16884872-16884873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555140550	chr9:16884953-16884954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540569502	chr9:16884990-16884991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12350739	chr9:16885017-16885018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529138201	chr9:16885032-16885033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544302864	chr9:16885044-16885045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562542742	chr9:16885055-16885056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144472903	chr9:16885059-16885060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372644663	chr9:16885070-16885071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533075176	chr9:16885107-16885108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373733080	chr9:16885129-16885130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79090241	chr9:16885134-16885135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566465331	chr9:16885167-16885168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527973878	chr9:16885256-16885257	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79878401	chr9:16885261-16885262	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571588446	chr9:16885294-16885295	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549689337	chr9:16885307-16885308	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375524169	chr9:16885348-16885349	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16872000-16885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16883200-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:16883200-16885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:16883200-16886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:16883400-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:16883400-16885400	Enhancers	Osteobl	bone
7	chr9:16883400-16886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:16883600-16885800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:16883600-16886600	Enhancers	Dnd41	blood
10	chr9:16883800-16885400	Enhancers	Fetal Lung	lung
11	chr9:16883800-16885400	Enhancers	Stomach Smooth Muscle	stomach
12	chr9:16883800-16885800	Enhancers	HSMM	muscle
13	chr9:16883800-16885800	Enhancers	NHDF-Ad	bronchial
14	chr9:16883800-16886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:16883800-16886000	Enhancers	NHLF	lung
16	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:16884000-16886200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:16884200-16884600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:16884200-16885600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr9:16884400-16884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:16884400-16884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:16884400-16885000	Enhancers	HSMMtube	muscle
24	chr9:16884400-16885200	Enhancers	Rectal Smooth Muscle	rectum
25	chr9:16884400-16885600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:16884400-16886000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:16884600-16884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:16884600-16885000	Enhancers	Adipose Nuclei	Adipose
29	chr9:16884600-16885400	Enhancers	Colon Smooth Muscle	Colon
30	chr9:16884800-16885000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:16884800-16885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:16884800-16885200	Enhancers	Placenta	Placenta
33	chr9:16884800-16885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:16884800-16885600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:16885000-16885400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:16885000-16885400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:16885000-16885400	Enhancers	Primary T cells from cord blood	blood
38	chr9:16885000-16885400	Weak transcription	HSMMtube	muscle
39	chr9:16885000-16885600	Enhancers	Fetal Stomach	stomach
40	chr9:16885000-16885800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:16885000-16886000	Enhancers	Fetal Thymus	thymus
42	chr9:16885000-16886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:16885200-16885400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:16885400-16886000	Enhancers	HSMMtube	muscle
45	chr9:16885400-16886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:16885400-16886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:16885600-16886200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:16885800-16886400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:16886000-16887200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:16886200-16887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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