Variant report

Variant	esv3386299
Chromosome Location	chr9:86608775-86613713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86612231..86616038-chr9:86617136..86619825,3	K562	blood:
2	chr9:86605130..86608071-chr9:86609425..86612751,3	K562	blood:
3	chr9:86611159..86613982-chr9:86615279..86618286,3	MCF-7	breast:
4	chr9:86594483..86596234-chr9:86610313..86612514,2	K562	blood:
5	chr9:86592736..86597542-chr9:86606160..86610925,6	K562	blood:

Variant related genes	Relation type
ENSG00000178966	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000202523	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs558524711	chr9:86608803-86608804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374953505	chr9:86608812-86608813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55952909	chr9:86608851-86608852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546734290	chr9:86608862-86608863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35033710	chr9:86608879-86608880	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184698713	chr9:86608913-86608914	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563847475	chr9:86608925-86608926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138776362	chr9:86608966-86608967	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543242025	chr9:86609015-86609016	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561218485	chr9:86609030-86609031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528633705	chr9:86609040-86609041	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs202006926	chr9:86609058-86609059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189696904	chr9:86609063-86609064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs58090060	chr9:86609099-86609100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180881657	chr9:86609105-86609106	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550438087	chr9:86609113-86609114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567715761	chr9:86609115-86609116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184350569	chr9:86609281-86609282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536047761	chr9:86609306-86609307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79822206	chr9:86609315-86609316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566395149	chr9:86609321-86609322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533894896	chr9:86609354-86609355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373260549	chr9:86609406-86609407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558550178	chr9:86609414-86609415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs576932873	chr9:86609484-86609485	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs537871731	chr9:86609508-86609509	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536675328	chr9:86609520-86609521	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs556821556	chr9:86609565-86609566	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs143213554	chr9:86609600-86609601	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs114133285	chr9:86609618-86609619	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs542851262	chr9:86609685-86609686	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147498873	chr9:86609686-86609687	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573217304	chr9:86609705-86609706	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs539374310	chr9:86609725-86609726	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs62565805	chr9:86609733-86609734	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540737042	chr9:86609764-86609765	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564908799	chr9:86609809-86609810	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560719975	chr9:86609824-86609825	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs189392720	chr9:86609825-86609826	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs550601889	chr9:86609829-86609830	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs75424930	chr9:86609844-86609845	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530003243	chr9:86609904-86609905	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs117355062	chr9:86609914-86609915	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs548037209	chr9:86609983-86609984	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs181831714	chr9:86609984-86609985	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533621428	chr9:86610001-86610002	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs552283024	chr9:86610011-86610012	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529857392	chr9:86610040-86610041	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs570597610	chr9:86610074-86610075	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs138469785	chr9:86610093-86610094	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86596400-86632400	Weak transcription	Spleen	Spleen
2	chr9:86596600-86610600	Weak transcription	Esophagus	oesophagus
3	chr9:86596600-86613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:86596600-86613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:86596600-86616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:86596600-86617000	Weak transcription	Lung	lung
7	chr9:86596600-86618200	Weak transcription	Ovary	ovary
8	chr9:86596600-86619600	Weak transcription	Gastric	stomach
9	chr9:86596800-86613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:86596800-86614400	Weak transcription	HSMMtube	muscle
11	chr9:86596800-86616000	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:86596800-86616200	Weak transcription	Brain Angular Gyrus	brain
13	chr9:86596800-86616200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:86596800-86619600	Weak transcription	Small Intestine	intestine
15	chr9:86596800-86621400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:86596800-86621600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:86597000-86609600	Weak transcription	Primary T cells from cord blood	blood
18	chr9:86597000-86614200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:86597000-86616000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:86597000-86616000	Weak transcription	Fetal Lung	lung
21	chr9:86597000-86617200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:86597000-86621200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:86597000-86621600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:86597200-86614200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:86597200-86615400	Weak transcription	NHDF-Ad	bronchial
26	chr9:86597200-86616000	Weak transcription	Fetal Kidney	kidney
27	chr9:86597200-86616800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:86597200-86619000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:86597400-86628800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:86597600-86615800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:86597800-86610400	Weak transcription	Fetal Brain Male	brain
32	chr9:86598000-86615800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:86598400-86614200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:86598600-86615400	Weak transcription	HUVEC	blood vessel
35	chr9:86598800-86622400	Weak transcription	Brain Germinal Matrix	brain
36	chr9:86602000-86614400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr9:86602000-86616000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:86602000-86616000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:86602000-86620800	Weak transcription	NHLF	lung
40	chr9:86602000-86623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:86602200-86610600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr9:86602200-86610800	Weak transcription	Fetal Heart	heart
43	chr9:86602200-86616000	Weak transcription	HSMM	muscle
44	chr9:86602200-86617400	Weak transcription	Osteobl	bone
45	chr9:86602200-86618000	Weak transcription	NHEK	skin
46	chr9:86602200-86618200	Weak transcription	Placenta	Placenta
47	chr9:86602400-86616000	Weak transcription	Primary B cells from cord blood	blood
48	chr9:86602400-86616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:86602400-86616200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:86602400-86618000	Weak transcription	Primary T cells fromperipheralblood	blood

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