Variant report

Variant	esv3393363
Chromosome Location	chr9:86507932-86513530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:86509271-86509565	HepG2	liver:	n/a	n/a
2	FOS	chr9:86509332-86509508	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr9:86509311-86509514	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr9:86509264-86509534	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr9:86509271-86509548	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr9:86509286-86509457	HepG2	liver:	n/a	n/a
7	MAZ	chr9:86510463-86510467	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:86509487-86509548	K562	blood:	n/a	n/a
9	POLR2A	chr9:86508065-86508111	MCF-7	breast:	n/a	n/a
10	POLR2A	chr9:86507911-86508113	Gliobla	brain:	n/a	n/a
11	POLR2A	chr9:86508180-86508213	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:86509410-86509598	Gliobla	brain:	n/a	n/a
13	POLR2A	chr9:86507996-86508132	A549	lung:	n/a	n/a
14	POLR2A	chr9:86508012-86508116	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:86507985-86507992	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86507562..86509693-chr9:86509764..86511267,2	K562	blood:
2	chr9:86507562..86509693-chr9:86509764..86511267,2	K562	blood:

Variant related genes	Relation type
KIF27	TF binding region

Extended variants
information (count: 213 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562854263	chr9:86507963-86507964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577556859	chr9:86507991-86507992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544800682	chr9:86508056-86508057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556766073	chr9:86508092-86508093	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147481043	chr9:86508157-86508158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542725677	chr9:86508167-86508168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367997233	chr9:86508221-86508222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560695403	chr9:86508231-86508232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528094364	chr9:86508247-86508248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531804790	chr9:86508258-86508259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540270367	chr9:86508354-86508355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559337060	chr9:86508372-86508373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116459679	chr9:86508385-86508386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3119923	chr9:86508387-86508388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3119924	chr9:86508403-86508404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3119753	chr9:86508407-86508408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs3119925	chr9:86508421-86508422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577300088	chr9:86508593-86508594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551988706	chr9:86508636-86508637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3119926	chr9:86508676-86508677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191748523	chr9:86508678-86508679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201368230	chr9:86508687-86508688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530880370	chr9:86508718-86508719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35535989	chr9:86508840-86508841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181459193	chr9:86508940-86508941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567513470	chr9:86508951-86508952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2990942	chr9:86508997-86508998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535009730	chr9:86509045-86509046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369078418	chr9:86509055-86509056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564809024	chr9:86509126-86509127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62563543	chr9:86509146-86509147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148787570	chr9:86509149-86509150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556706711	chr9:86509159-86509160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62563544	chr9:86509212-86509213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2780187	chr9:86509220-86509221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2780188	chr9:86509318-86509319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1831757	chr9:86509330-86509331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2780189	chr9:86509347-86509348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200448948	chr9:86509365-86509366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554638331	chr9:86509385-86509386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1831758	chr9:86509415-86509416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190094647	chr9:86509432-86509433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564905701	chr9:86509479-86509480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372308192	chr9:86509494-86509495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111668587	chr9:86509531-86509532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545738015	chr9:86509541-86509542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139869333	chr9:86509545-86509546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182314875	chr9:86509548-86509549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570010860	chr9:86509564-86509565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77037772	chr9:86509588-86509589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
2	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:86461600-86535400	Weak transcription	Ovary	ovary
4	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
5	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
6	chr9:86462800-86515000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
8	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
9	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
11	chr9:86490400-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
16	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
17	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:86496600-86515600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:86499200-86513400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
23	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
24	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
26	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:86500200-86535600	Weak transcription	Lung	lung
30	chr9:86501200-86514600	Weak transcription	HepG2	liver
31	chr9:86501200-86521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:86501800-86512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:86502000-86511600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung
36	chr9:86502800-86512400	Weak transcription	Brain Germinal Matrix	brain
37	chr9:86503000-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:86506400-86534800	Weak transcription	Pancreas	Pancrea
39	chr9:86508000-86508200	Enhancers	Aorta	Aorta
40	chr9:86508000-86508200	Enhancers	Esophagus	oesophagus
41	chr9:86508200-86518400	Weak transcription	Aorta	Aorta
42	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
43	chr9:86508400-86520200	Weak transcription	Liver	Liver
44	chr9:86508800-86513600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:86509000-86521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:86509200-86509600	Enhancers	HMEC	breast
47	chr9:86512400-86513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:86512600-86518000	Weak transcription	Spleen	Spleen
50	chr9:86512600-86535400	Weak transcription	Placenta	Placenta

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