Variant report

Variant	esv3344171
Chromosome Location	chr9:97032206-97034429
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	chr9:97031911..97033844-chr9:97036633..97038173,2	MCF-7	breast:
2	chr9:97020628..97022999-chr9:97030630..97033339,2	K562	blood:

Variant related genes	Relation type
ENSG00000175787	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115884895	chr9:97032221-97032222	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368093368	chr9:97032222-97032223	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544612414	chr9:97032239-97032240	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559670754	chr9:97032255-97032256	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528019813	chr9:97032272-97032273	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575448257	chr9:97032308-97032309	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543291494	chr9:97032309-97032310	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561351784	chr9:97032323-97032324	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184363417	chr9:97032381-97032382	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188796913	chr9:97032383-97032384	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543050918	chr9:97032433-97032434	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140965203	chr9:97032467-97032468	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547860362	chr9:97032521-97032522	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566068777	chr9:97032522-97032523	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554651317	chr9:97032544-97032545	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150362594	chr9:97032545-97032546	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555611667	chr9:97032681-97032682	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116546988	chr9:97032704-97032705	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556191905	chr9:97032750-97032751	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556043608	chr9:97032817-97032818	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577320236	chr9:97032827-97032828	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115358506	chr9:97032829-97032830	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74472518	chr9:97032841-97032842	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181349368	chr9:97032952-97032953	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542231148	chr9:97032960-97032961	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71507996	chr9:97032962-97032963	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552603208	chr9:97032976-97032977	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372563639	chr9:97032978-97032979	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561645498	chr9:97032986-97032987	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376147383	chr9:97032987-97032988	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368631905	chr9:97033002-97033003	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71366221	chr9:97033004-97033005	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371785922	chr9:97033019-97033020	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201577001	chr9:97033021-97033022	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369404052	chr9:97033022-97033023	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186673828	chr9:97033024-97033025	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10821328	chr9:97033034-97033035	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10821329	chr9:97033040-97033041	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371751888	chr9:97033042-97033043	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375108329	chr9:97033045-97033046	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13287078	chr9:97033051-97033052	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13293101	chr9:97033052-97033053	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10821331	chr9:97033058-97033059	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10821332	chr9:97033066-97033067	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543999527	chr9:97033073-97033074	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565476889	chr9:97033076-97033077	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71496481	chr9:97033088-97033089	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568299545	chr9:97033089-97033090	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369547302	chr9:97033111-97033112	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12553781	chr9:97033112-97033113	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022200-97033400	Weak transcription	Fetal Stomach	stomach
2	chr9:97022200-97040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:97022200-97041800	Weak transcription	Fetal Lung	lung
4	chr9:97022200-97042600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
6	chr9:97022400-97036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:97022600-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:97022800-97040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:97022800-97040800	Weak transcription	Thymus	Thymus
11	chr9:97022800-97042400	Weak transcription	Brain Angular Gyrus	brain
12	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
13	chr9:97023000-97036400	Weak transcription	Primary T cells from cord blood	blood
14	chr9:97023000-97040600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr9:97023000-97040600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:97023000-97040600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:97023000-97040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:97023000-97040600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:97023000-97040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:97023000-97040800	Weak transcription	Lung	lung
21	chr9:97023000-97041000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:97023000-97041000	Weak transcription	Ovary	ovary
23	chr9:97023000-97041800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:97023000-97041800	Weak transcription	Esophagus	oesophagus
25	chr9:97023000-97050000	Weak transcription	Right Ventricle	heart
26	chr9:97023000-97055400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:97023400-97042800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:97023600-97040800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:97024000-97041200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr9:97024200-97035000	Weak transcription	GM12878-XiMat	blood
31	chr9:97024400-97040400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr9:97026200-97033600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:97027000-97040600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:97028200-97032600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:97029000-97039000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:97029400-97033400	Weak transcription	Stomach Mucosa	stomach
37	chr9:97029600-97038800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:97029600-97041800	Weak transcription	Spleen	Spleen
39	chr9:97030200-97033800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:97030200-97036200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr9:97030200-97040600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:97030200-97048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:97030400-97040800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr9:97030400-97042200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:97031000-97033600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr9:97031000-97040600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:97031200-97032600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:97031600-97032400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:97031800-97032400	Active TSS	A549	lung
50	chr9:97031800-97032400	Active TSS	HepG2	liver

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