Variant report

Variant	nsv973443
Chromosome Location	chr9:84618817-84635284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 280 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539758460	chr9:84620616-84620617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73480314	chr9:84620663-84620664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189128905	chr9:84620679-84620680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562881403	chr9:84620728-84620729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553600866	chr9:84620817-84620818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530092236	chr9:84620822-84620823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572751224	chr9:84620823-84620824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548321417	chr9:84620861-84620862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115530866	chr9:84620910-84620911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146055849	chr9:84620976-84620977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116754877	chr9:84620983-84620984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571058868	chr9:84621085-84621086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538485144	chr9:84621095-84621096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140046188	chr9:84621222-84621223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574480034	chr9:84621252-84621253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374647147	chr9:84621294-84621295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142338898	chr9:84621309-84621310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368933853	chr9:84621321-84621322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560584103	chr9:84621369-84621370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182590455	chr9:84621370-84621371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545698654	chr9:84621422-84621423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17085206	chr9:84621444-84621445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575823340	chr9:84621456-84621457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35365415	chr9:84621542-84621543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535040606	chr9:84621661-84621662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562979348	chr9:84621738-84621739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73480317	chr9:84621763-84621764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548527371	chr9:84621795-84621796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560295060	chr9:84621868-84621869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187106724	chr9:84621895-84621896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190364607	chr9:84621912-84621913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552899252	chr9:84622075-84622076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571199787	chr9:84622107-84622108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538424287	chr9:84622150-84622151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150851576	chr9:84622183-84622184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568115146	chr9:84622232-84622233	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535208649	chr9:84622234-84622235	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553684448	chr9:84622306-84622307	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181405915	chr9:84622365-84622366	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539088363	chr9:84622374-84622375	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373467851	chr9:84622423-84622424	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78556839	chr9:84622438-84622439	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543185528	chr9:84622572-84622573	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185552687	chr9:84622576-84622577	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574975576	chr9:84622590-84622591	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574834188	chr9:84622658-84622659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139336333	chr9:84622755-84622756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56306550	chr9:84622845-84622846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527674427	chr9:84622849-84622850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546251661	chr9:84622852-84622853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84620600-84621000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:84621000-84621200	Enhancers	Fetal Stomach	stomach
3	chr9:84621200-84621800	Weak transcription	Fetal Stomach	stomach
4	chr9:84621400-84621800	Enhancers	Fetal Lung	lung
5	chr9:84621800-84622200	Weak transcription	Fetal Lung	lung
6	chr9:84621800-84622400	Enhancers	Fetal Stomach	stomach
7	chr9:84622200-84622400	Enhancers	Fetal Lung	lung
8	chr9:84622200-84622600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:84622400-84624600	Weak transcription	Fetal Lung	lung
10	chr9:84622600-84622800	Enhancers	Fetal Intestine Small	intestine
11	chr9:84624400-84625000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:84624600-84624800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:84624600-84625400	Enhancers	Fetal Lung	lung
14	chr9:84624800-84625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:84625200-84625400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:84625400-84626400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:84625800-84626200	Enhancers	Colon Smooth Muscle	Colon
18	chr9:84626200-84629200	Enhancers	Fetal Intestine Small	intestine
19	chr9:84626400-84626600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:84626400-84627000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:84626400-84627200	Enhancers	Fetal Intestine Large	intestine
22	chr9:84627000-84627200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:84627200-84627400	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:84633600-84634000	Enhancers	Osteobl	bone
25	chr9:84634000-84635400	Weak transcription	Osteobl	bone
26	chr9:84634800-84638600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links