Variant report

Variant	esv2752311
Chromosome Location	chr9:9860870-9885640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 955 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:955 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9407450	chr9:9860872-9860873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561863863	chr9:9860885-9860886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527444502	chr9:9860892-9860893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547619295	chr9:9860893-9860894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138039313	chr9:9860907-9860908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78946835	chr9:9860914-9860915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79068143	chr9:9860919-9860920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569926919	chr9:9860933-9860934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147130507	chr9:9860940-9860941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555568583	chr9:9860942-9860943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112595236	chr9:9860943-9860944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114104868	chr9:9860965-9860966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560096624	chr9:9860966-9860967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142220511	chr9:9860988-9860989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10816216	chr9:9861006-9861007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557684720	chr9:9861036-9861037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575940001	chr9:9861038-9861039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188574307	chr9:9861045-9861046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572443631	chr9:9861075-9861076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561584328	chr9:9861120-9861121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74760351	chr9:9861141-9861142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541190232	chr9:9861148-9861149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564255784	chr9:9861186-9861187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111321311	chr9:9861206-9861207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563639197	chr9:9861209-9861210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181192970	chr9:9861236-9861237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549360468	chr9:9861247-9861248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114242613	chr9:9861262-9861263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555516783	chr9:9861281-9861282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185844453	chr9:9861283-9861284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572143155	chr9:9861298-9861299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374672568	chr9:9861302-9861303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12380595	chr9:9861336-9861337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577801619	chr9:9861352-9861353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571505766	chr9:9861359-9861360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149938797	chr9:9861360-9861361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557331992	chr9:9861365-9861366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371780333	chr9:9861367-9861368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370329460	chr9:9861370-9861371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375204158	chr9:9861371-9861372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10119458	chr9:9861372-9861373	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555420733	chr9:9861376-9861377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189047332	chr9:9861393-9861394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372247050	chr9:9861394-9861395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140579471	chr9:9861415-9861416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181881717	chr9:9861416-9861417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577900790	chr9:9861418-9861419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528960593	chr9:9861451-9861452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543612251	chr9:9861510-9861511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375290997	chr9:9861525-9861526	Enhancers Weak transcription	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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9855600-9861000	Weak transcription	Dnd41	blood
2	chr9:9856200-9862400	Weak transcription	Fetal Thymus	thymus
3	chr9:9860200-9861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:9860800-9861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:9861000-9862200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:9861000-9862200	Enhancers	Dnd41	blood
7	chr9:9861400-9862600	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:9861600-9862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:9862000-9863000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:9862200-9862400	Active TSS	Thymus	Thymus
11	chr9:9862200-9862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:9862200-9862800	Flanking Active TSS	Dnd41	blood
13	chr9:9862400-9862800	Enhancers	Primary T cells from cord blood	blood
14	chr9:9862400-9862800	Flanking Active TSS	Thymus	Thymus
15	chr9:9862400-9863000	Enhancers	Fetal Thymus	thymus
16	chr9:9862600-9862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:9862800-9863600	Enhancers	Thymus	Thymus
18	chr9:9862800-9863800	Enhancers	Dnd41	blood
19	chr9:9863000-9863400	Weak transcription	Fetal Thymus	thymus
20	chr9:9863400-9863600	Enhancers	Fetal Thymus	thymus
21	chr9:9863600-9867800	Weak transcription	Fetal Thymus	thymus
22	chr9:9863600-9867800	Weak transcription	Thymus	Thymus
23	chr9:9863800-9867800	Weak transcription	Dnd41	blood
24	chr9:9867800-9868200	Enhancers	Fetal Thymus	thymus
25	chr9:9867800-9868200	Enhancers	Thymus	Thymus
26	chr9:9867800-9868200	Enhancers	Dnd41	blood
27	chr9:9873400-9874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:9874000-9874800	Enhancers	Primary hematopoietic stem cells	blood
29	chr9:9874200-9874600	Enhancers	Dnd41	blood
30	chr9:9874200-9874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:9874600-9879200	Weak transcription	Dnd41	blood
32	chr9:9877600-9878400	Enhancers	Placenta	Placenta
33	chr9:9878400-9880000	Weak transcription	Placenta	Placenta
34	chr9:9879200-9880200	Enhancers	Dnd41	blood
35	chr9:9879600-9880000	Enhancers	Primary T cells from cord blood	blood
36	chr9:9879600-9880200	Enhancers	Fetal Thymus	thymus
37	chr9:9879600-9880200	Enhancers	Thymus	Thymus
38	chr9:9880000-9880400	Enhancers	Placenta	Placenta
39	chr9:9880400-9881600	Weak transcription	Placenta	Placenta
40	chr9:9881400-9882000	Enhancers	HMEC	breast
41	chr9:9881600-9881800	Enhancers	Placenta	Placenta
42	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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