Variant report

Variant	esv3380801
Chromosome Location	chr9:92859132-92863030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:92218170..92219779-chr9:92860689..92862604,2	MCF-7	breast:
2	chr9:92219255..92222737-chr9:92856647..92859942,4	MCF-7	breast:
3	chr9:92213022..92213731-chr9:92861384..92862297,6	MCF-7	breast:
4	chr9:92219124..92221595-chr9:92854778..92859945,4	MCF-7	breast:
5	chr9:92218709..92223183-chr9:92862729..92866537,7	MCF-7	breast:
6	chr9:92740215..92741137-chr9:92861382..92862059,2	MCF-7	breast:
7	chr9:92212338..92213668-chr9:92861349..92862183,3	MCF-7	breast:
8	chr9:92857591..92859341-chr9:92860040..92862686,2	MCF-7	breast:
9	chr9:91924753..91927067-chr9:92857901..92860576,2	MCF-7	breast:
10	chr9:92681413..92682319-chr9:92861601..92862185,2	MCF-7	breast:
11	chr9:92218658..92223647-chr9:92860097..92866006,11	MCF-7	breast:
12	chr9:92857591..92859341-chr9:92860040..92862686,2	MCF-7	breast:
13	chr9:92850629..92852906-chr9:92857887..92860130,2	MCF-7	breast:
14	chr9:92843844..92846787-chr9:92857417..92859315,2	MCF-7	breast:
15	chr9:92217541..92219304-chr9:92861323..92862818,15	MCF-7	breast:
16	chr9:92221881..92224569-chr9:92856789..92859369,3	MCF-7	breast:
17	chr9:92207554..92215968-chr9:92858794..92866301,17	MCF-7	breast:
18	chr9:92217628..92218654-chr9:92861302..92862433,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237626	chromatin interactions
ENSG00000234910	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000130222	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140960349	chr9:92859152-92859153	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs143219668	chr9:92859159-92859160	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs530597068	chr9:92859176-92859177	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542662998	chr9:92859218-92859219	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544306713	chr9:92859223-92859224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs139528245	chr9:92859239-92859240	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149684243	chr9:92859251-92859252	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549700841	chr9:92859270-92859271	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145479659	chr9:92859271-92859272	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148397099	chr9:92859273-92859274	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs551457902	chr9:92859342-92859343	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571594510	chr9:92859361-92859362	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144174648	chr9:92859390-92859391	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146514715	chr9:92859395-92859396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567171172	chr9:92859412-92859413	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12553616	chr9:92859417-92859418	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs571545193	chr9:92859439-92859440	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553243433	chr9:92859456-92859457	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs573022397	chr9:92859469-92859470	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545014008	chr9:92859520-92859521	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565120268	chr9:92859570-92859571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs141073167	chr9:92859580-92859581	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544367131	chr9:92859602-92859603	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12552603	chr9:92859610-92859611	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566335275	chr9:92859631-92859632	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10992064	chr9:92859654-92859655	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542818291	chr9:92859655-92859656	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144798176	chr9:92859658-92859659	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs16906191	chr9:92859704-92859705	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552034883	chr9:92859709-92859710	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527457803	chr9:92859729-92859730	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs388659	chr9:92859759-92859760	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35621302	chr9:92859776-92859777	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530811535	chr9:92859778-92859779	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550665219	chr9:92859779-92859780	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs395437	chr9:92859808-92859809	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73651746	chr9:92859810-92859811	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs193247730	chr9:92859823-92859824	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs395162	chr9:92859856-92859857	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115392780	chr9:92859884-92859885	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546452587	chr9:92859887-92859888	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115985331	chr9:92859888-92859889	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10992067	chr9:92859893-92859894	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558809441	chr9:92859900-92859901	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575313152	chr9:92859918-92859919	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567319525	chr9:92859993-92859994	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556371697	chr9:92860002-92860003	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577959196	chr9:92860024-92860025	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536451177	chr9:92860037-92860038	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73651747	chr9:92860038-92860039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92848800-92862200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:92855600-92864400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:92857000-92860400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr9:92857000-92861600	Enhancers	Fetal Brain Female	brain
5	chr9:92857000-92862400	Enhancers	Fetal Brain Male	brain
6	chr9:92857600-92859200	Bivalent Enhancer	Fetal Thymus	thymus
7	chr9:92857800-92859800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr9:92857800-92862800	Enhancers	Brain Germinal Matrix	brain
9	chr9:92857800-92862800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:92858000-92859800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:92858000-92860400	Enhancers	Left Ventricle	heart
12	chr9:92858000-92860800	Enhancers	Right Ventricle	heart
13	chr9:92858000-92861200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr9:92858400-92859600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:92858400-92861000	Weak transcription	Fetal Lung	lung
16	chr9:92858400-92861600	Weak transcription	Pancreas	Pancrea
17	chr9:92858600-92859600	Weak transcription	Psoas Muscle	Psoas
18	chr9:92858600-92870200	Weak transcription	Right Atrium	heart
19	chr9:92858800-92864400	Weak transcription	Fetal Intestine Large	intestine
20	chr9:92859000-92861200	Weak transcription	HSMMtube	muscle
21	chr9:92859400-92859800	Enhancers	Spleen	Spleen
22	chr9:92859600-92860000	Enhancers	Psoas Muscle	Psoas
23	chr9:92859600-92861000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:92859800-92860000	Enhancers	Liver	Liver
25	chr9:92859800-92860800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:92859800-92861000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:92859800-92861200	Weak transcription	Spleen	Spleen
28	chr9:92860000-92867600	Weak transcription	Psoas Muscle	Psoas
29	chr9:92860000-92868400	Weak transcription	Liver	Liver
30	chr9:92860400-92860600	Bivalent Enhancer	Fetal Stomach	stomach
31	chr9:92860400-92864800	Weak transcription	Left Ventricle	heart
32	chr9:92860600-92861000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr9:92860800-92861200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:92860800-92861800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:92860800-92870200	Weak transcription	Right Ventricle	heart
36	chr9:92861000-92861400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:92861000-92861600	Active TSS	Fetal Lung	lung
38	chr9:92861000-92861800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:92861000-92862800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr9:92861200-92861600	Active TSS	Spleen	Spleen
41	chr9:92861200-92861600	Enhancers	HSMMtube	muscle
42	chr9:92861200-92861800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:92861200-92862400	Enhancers	Ovary	ovary
44	chr9:92861200-92862800	Enhancers	HSMM	muscle
45	chr9:92861400-92861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:92861400-92862000	Enhancers	Rectal Smooth Muscle	rectum
47	chr9:92861600-92861800	ZNF genes & repeats	Fetal Kidney	kidney
48	chr9:92861600-92861800	Flanking Active TSS	Fetal Lung	lung
49	chr9:92861600-92868400	Weak transcription	HSMMtube	muscle
50	chr9:92861800-92862400	Enhancers	Fetal Lung	lung

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