Variant report

Variant	nsv982334
Chromosome Location	chr9:108282762-108289464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36277068..36278820-chr9:108280649..108283643,2	K562	blood:
2	chr14:36275899..36279251-chr9:108280657..108284109,7	MCF-7	breast:
3	chr9:108285609..108287326-chr9:108292970..108295032,2	K562	blood:

Variant related genes	Relation type
ENSG00000266264	chromatin interactions
ENSG00000174373	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568026820	chr9:108282773-108282774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs79146108	chr9:108282776-108282777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553774867	chr9:108282812-108282813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368212144	chr9:108282821-108282822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572049347	chr9:108282824-108282825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545850238	chr9:108282834-108282835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7357632	chr9:108282855-108282856	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576332616	chr9:108282857-108282858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201918122	chr9:108282866-108282867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543204871	chr9:108282911-108282912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561929212	chr9:108282923-108282924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529332470	chr9:108282936-108282937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541146894	chr9:108282980-108282981	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559447214	chr9:108282981-108282982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533139855	chr9:108283015-108283016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551410015	chr9:108283055-108283056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570209856	chr9:108283071-108283072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531246167	chr9:108283110-108283111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549276084	chr9:108283160-108283161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368028575	chr9:108283165-108283166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187367592	chr9:108283168-108283169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373635073	chr9:108283173-108283174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565822272	chr9:108283216-108283217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539435245	chr9:108283224-108283225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190434799	chr9:108283261-108283262	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113016829	chr9:108283337-108283338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576214299	chr9:108283341-108283342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116388178	chr9:108283343-108283344	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555243654	chr9:108283344-108283345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573757772	chr9:108283347-108283348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540860724	chr9:108283386-108283387	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182652386	chr9:108283409-108283410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113449001	chr9:108283429-108283430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544961672	chr9:108283444-108283445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563718072	chr9:108283462-108283463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531085989	chr9:108283498-108283499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576255355	chr9:108283623-108283624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192639554	chr9:108283624-108283625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561462173	chr9:108283646-108283647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528689664	chr9:108283717-108283718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547260933	chr9:108283726-108283727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7034475	chr9:108283727-108283728	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367809171	chr9:108283740-108283741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201510783	chr9:108283770-108283771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539546370	chr9:108283817-108283818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4742950	chr9:108283839-108283840	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs375337925	chr9:108283918-108283919	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369859394	chr9:108283952-108283953	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536674819	chr9:108284009-108284010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555619796	chr9:108284015-108284016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
3	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:108268200-108306000	Weak transcription	Brain Angular Gyrus	brain
6	chr9:108269800-108286200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:108272800-108304600	Weak transcription	NHEK	skin
8	chr9:108274400-108299800	Weak transcription	Fetal Lung	lung
9	chr9:108276200-108309200	Weak transcription	Lung	lung
10	chr9:108278000-108292800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:108278200-108284000	Weak transcription	Adipose Nuclei	Adipose
12	chr9:108278800-108286600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:108278800-108296600	Weak transcription	A549	lung
14	chr9:108278800-108297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:108278800-108305800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:108279000-108284600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:108279000-108290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:108279000-108293200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:108279000-108296000	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:108279000-108311400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:108279200-108297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:108279200-108313000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:108279400-108296800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:108279600-108294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:108279600-108296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:108280200-108285400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:108280200-108289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:108280200-108289800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:108280200-108297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:108282400-108283000	Weak transcription	Pancreas	Pancrea
32	chr9:108282400-108284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:108282400-108288400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:108282400-108289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:108282400-108290400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:108282400-108292200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:108282400-108293200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:108282400-108294200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:108282400-108294800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:108282400-108294800	Weak transcription	NH-A	brain
41	chr9:108282400-108296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:108282400-108296800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:108282400-108296800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:108282400-108297600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:108282400-108299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:108282400-108300000	Weak transcription	HSMMtube	muscle
47	chr9:108282400-108302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:108282400-108302800	Weak transcription	HSMM	muscle
49	chr9:108282400-108312400	Weak transcription	HepG2	liver
50	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell

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