Variant report

Variant	esv3437897
Chromosome Location	chr9:93680731-93685229
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93683207..93685388-chr9:94184914..94187994,3	MCF-7	breast:
2	chr9:93683879..93685397-chr9:93712353..93714560,2	MCF-7	breast:
3	chr9:93679019..93680956-chr9:93684152..93687149,2	K562	blood:
4	chr9:93681178..93683556-chr9:93684318..93687198,2	MCF-7	breast:
5	chr9:93683300..93685317-chr9:93705427..93707006,2	MCF-7	breast:
6	chr9:93683951..93686543-chr9:93700116..93702555,2	MCF-7	breast:
7	chr9:93677665..93682323-chr9:93683536..93687193,5	MCF-7	breast:
8	chr9:93675751..93682846-chr9:94184185..94190004,10	MCF-7	breast:
9	chr9:93682204..93686521-chr9:93708730..93712212,6	MCF-7	breast:
10	chr9:93681178..93683556-chr9:93684318..93687198,2	MCF-7	breast:
11	chr9:93677665..93682323-chr9:93683536..93687193,5	MCF-7	breast:
12	chr9:93682025..93684983-chr9:93787806..93789762,2	MCF-7	breast:
13	chr9:93681274..93683060-chr9:93714729..93717613,2	MCF-7	breast:
14	chr9:93677459..93679335-chr9:93682010..93683558,2	MCF-7	breast:
15	chr9:93676720..93679314-chr9:93684985..93688336,3	MCF-7	breast:
16	chr9:93679019..93680956-chr9:93684152..93687149,2	K562	blood:
17	chr9:93680322..93682785-chr9:93726933..93729227,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-3	chr9:93682784-93682927	XLOC_007771
2	lnc-DIRAS2-3	chr9:93683283-93683343	XLOC_007771

No data

Variant related genes	Relation type
ENSG00000233081	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000228216	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs113581955	chr9:93680748-93680749	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188207213	chr9:93680779-93680780	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540649635	chr9:93680785-93680786	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114299759	chr9:93680845-93680846	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564162712	chr9:93680846-93680847	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201569275	chr9:93680857-93680858	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577129946	chr9:93680858-93680859	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs180960081	chr9:93680860-93680861	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147735794	chr9:93680861-93680862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531802907	chr9:93680909-93680910	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542336860	chr9:93680912-93680913	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562062066	chr9:93680916-93680917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs527750639	chr9:93680979-93680980	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs547821855	chr9:93680995-93680996	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs564423860	chr9:93681018-93681019	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112968148	chr9:93681026-93681027	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs550088085	chr9:93681077-93681078	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs150180520	chr9:93681086-93681087	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs535274390	chr9:93681112-93681113	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs145712995	chr9:93681123-93681124	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs13287711	chr9:93681139-93681140	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534376371	chr9:93681202-93681203	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112545284	chr9:93681217-93681218	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546543286	chr9:93681248-93681249	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs148940222	chr9:93681268-93681269	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs291753	chr9:93681295-93681296	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186169337	chr9:93681296-93681297	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs291754	chr9:93681343-93681344	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143709202	chr9:93681381-93681382	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375967145	chr9:93681383-93681384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374005771	chr9:93681393-93681394	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs542073151	chr9:93681401-93681402	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs138351750	chr9:93681420-93681421	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs572575725	chr9:93681430-93681431	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs141731302	chr9:93681552-93681553	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs537492175	chr9:93681553-93681554	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564510086	chr9:93681575-93681576	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs533346169	chr9:93681583-93681584	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs116979270	chr9:93681586-93681587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs557729267	chr9:93681641-93681642	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs529154301	chr9:93681667-93681668	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs291755	chr9:93681668-93681669	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565821144	chr9:93681675-93681676	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74554079	chr9:93681676-93681677	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551053627	chr9:93681697-93681698	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs145773032	chr9:93681713-93681714	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs570947184	chr9:93681715-93681716	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs291756	chr9:93681802-93681803	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145470160	chr9:93681870-93681871	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs576673509	chr9:93681885-93681886	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93658800-93683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:93674000-93681800	Weak transcription	Pancreas	Pancrea
3	chr9:93677400-93681600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:93677400-93682000	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:93677400-93682200	Weak transcription	Fetal Brain Male	brain
6	chr9:93677800-93681400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:93677800-93682200	Weak transcription	Fetal Heart	heart
8	chr9:93677800-93682400	Weak transcription	HMEC	breast
9	chr9:93678000-93681400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:93678600-93683200	Weak transcription	Liver	Liver
11	chr9:93680200-93681000	Weak transcription	NHDF-Ad	bronchial
12	chr9:93681400-93682400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr9:93681400-93683400	Enhancers	Aorta	Aorta
14	chr9:93681400-93686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:93681400-93687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:93681600-93683000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:93681600-93683800	Enhancers	Right Atrium	heart
18	chr9:93681600-93684000	Enhancers	Esophagus	oesophagus
19	chr9:93681800-93682200	Enhancers	Pancreas	Pancrea
20	chr9:93681800-93683000	Enhancers	Right Ventricle	heart
21	chr9:93682000-93682600	Enhancers	Fetal Muscle Trunk	muscle
22	chr9:93682000-93682600	Enhancers	Fetal Muscle Leg	muscle
23	chr9:93682200-93682400	Weak transcription	Pancreas	Pancrea
24	chr9:93682200-93682600	Enhancers	Left Ventricle	heart
25	chr9:93682200-93682800	Enhancers	Fetal Brain Male	brain
26	chr9:93682200-93682800	Enhancers	Fetal Heart	heart
27	chr9:93682200-93683400	Enhancers	Brain Germinal Matrix	brain
28	chr9:93682200-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:93682200-93684000	Enhancers	Fetal Stomach	stomach
30	chr9:93682200-93684200	Enhancers	Adipose Nuclei	Adipose
31	chr9:93682400-93682600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:93682400-93683200	Enhancers	Brain Substantia Nigra	brain
33	chr9:93682400-93683200	Enhancers	HMEC	breast
34	chr9:93682400-93683600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr9:93682400-93684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:93682400-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:93682400-93684800	Enhancers	Pancreas	Pancrea
38	chr9:93682600-93683200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:93682600-93683200	Enhancers	NHEK	skin
40	chr9:93682600-93683600	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:93682600-93683800	Enhancers	Brain Anterior Caudate	brain
42	chr9:93682600-93683800	Enhancers	Fetal Lung	lung
43	chr9:93682600-93684600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:93682800-93683200	Flanking Active TSS	Fetal Brain Male	brain
45	chr9:93682800-93683200	Enhancers	Stomach Smooth Muscle	stomach
46	chr9:93682800-93683400	Flanking Active TSS	Fetal Heart	heart
47	chr9:93683000-93684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:93683000-93692000	Weak transcription	Right Ventricle	heart
49	chr9:93683200-93683400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr9:93683200-93683600	Flanking Active TSS	HMEC	breast

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