Variant report

Variant	esv2757302
Chromosome Location	chr9:2965090-2985743
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	chr9:2937731..2940554-chr9:2963806..2965673,2	K562	blood:

Extended variants
information (count: 473 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4524846	chr9:2965090-2965091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532645554	chr9:2965091-2965092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112555213	chr9:2965093-2965094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376405394	chr9:2965096-2965097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552717996	chr9:2965099-2965100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574461013	chr9:2965101-2965102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190097264	chr9:2965129-2965130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140957813	chr9:2965136-2965137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555253155	chr9:2965137-2965138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568068647	chr9:2965139-2965140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537032681	chr9:2965144-2965145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556824970	chr9:2965161-2965162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115201308	chr9:2965170-2965171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370794395	chr9:2965186-2965187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373576216	chr9:2965216-2965217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553147199	chr9:2965245-2965246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181854435	chr9:2965246-2965247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541726270	chr9:2965250-2965251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73385333	chr9:2965255-2965256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186164906	chr9:2965256-2965257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147004816	chr9:2965294-2965295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35373319	chr9:2965306-2965307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189517069	chr9:2965313-2965314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180815670	chr9:2965317-2965318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138229510	chr9:2965318-2965319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142292768	chr9:2965382-2965383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566278702	chr9:2965407-2965408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184929863	chr9:2965453-2965454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190794625	chr9:2965482-2965483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545935102	chr9:2965487-2965488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62533930	chr9:2965488-2965489	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183160173	chr9:2965489-2965490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539540011	chr9:2965513-2965514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552747666	chr9:2965544-2965545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572711521	chr9:2965577-2965578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535262072	chr9:2965608-2965609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138589827	chr9:2965655-2965656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367711432	chr9:2965680-2965681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543488292	chr9:2965686-2965687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186408129	chr9:2965694-2965695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149260811	chr9:2965728-2965729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546285681	chr9:2965752-2965753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559873255	chr9:2965794-2965795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528740694	chr9:2965820-2965821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144516721	chr9:2965827-2965828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147981032	chr9:2965855-2965856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3847232	chr9:2965939-2965940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142380500	chr9:2965995-2965996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146148144	chr9:2966014-2966015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76300460	chr9:2966037-2966038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2961600-2969000	Enhancers	NHDF-Ad	bronchial
2	chr9:2962800-2966600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:2963200-2968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:2963600-2966400	Weak transcription	Fetal Brain Female	brain
5	chr9:2964000-2965800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:2964000-2967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:2964400-2965200	Enhancers	Adipose Nuclei	Adipose
8	chr9:2964400-2965800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:2964400-2966600	Weak transcription	Fetal Stomach	stomach
10	chr9:2964400-2966800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:2964600-2965200	Enhancers	HepG2	liver
12	chr9:2964800-2965200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:2965000-2965600	Enhancers	Fetal Brain Male	brain
14	chr9:2965200-2966400	Weak transcription	Adipose Nuclei	Adipose
15	chr9:2965600-2966600	Weak transcription	Fetal Brain Male	brain
16	chr9:2965800-2966200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:2965800-2966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:2966200-2966800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:2966400-2966600	Enhancers	Fetal Kidney	kidney
20	chr9:2966400-2967800	Enhancers	Fetal Brain Female	brain
21	chr9:2966400-2968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:2966400-2968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:2966400-2968400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:2966400-2968400	Enhancers	Adipose Nuclei	Adipose
25	chr9:2966600-2967000	Enhancers	Fetal Stomach	stomach
26	chr9:2966600-2967200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr9:2966600-2967200	Enhancers	Fetal Brain Male	brain
28	chr9:2966600-2967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:2966600-2967800	Enhancers	Brain Germinal Matrix	brain
30	chr9:2966800-2967200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:2966800-2967200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:2966800-2967200	Enhancers	Brain Anterior Caudate	brain
33	chr9:2966800-2967200	Enhancers	Fetal Muscle Leg	muscle
34	chr9:2967000-2968000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:2967200-2967400	Enhancers	Fetal Kidney	kidney
36	chr9:2967200-2967600	Enhancers	Brain Substantia Nigra	brain
37	chr9:2967200-2968000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:2967200-2968400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:2967400-2967800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:2967800-2968600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:2968200-2968400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:2979000-2979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:2979000-2979400	Enhancers	Brain Hippocampus Middle	brain
44	chr9:2979200-2979600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr9:2979400-2979600	Enhancers	Brain Cingulate Gyrus	brain
46	chr9:2980000-2980400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:2980200-2980400	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:2980400-2983800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:2984200-2986200	Enhancers	NHDF-Ad	bronchial
50	chr9:2984400-2985000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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