Variant report

Variant	nsv6610
Chromosome Location	chr9:93428408-93473346
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93463508..93465542-chr9:93470108..93472362,2	MCF-7	breast:
2	chr9:93459853..93461587-chr9:93462995..93465066,2	MCF-7	breast:
3	chr9:93463508..93465542-chr9:93470108..93472362,2	MCF-7	breast:
4	chr9:93465686..93467916-chr9:93473022..93475228,2	K562	blood:
5	chr9:93461617..93463481-chr9:93467909..93469710,2	MCF-7	breast:
6	chr9:93465686..93467916-chr9:93473022..93475228,2	K562	blood:
7	chr9:93459853..93461587-chr9:93462995..93465066,2	MCF-7	breast:
8	chr9:93440411..93442575-chr9:93562498..93565446,2	MCF-7	breast:
9	chr9:93461617..93463481-chr9:93467909..93469710,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 1106 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549740414	chr9:93428445-93428446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58899386	chr9:93428448-93428449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528895794	chr9:93428450-93428451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548858169	chr9:93428453-93428454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181615497	chr9:93428472-93428473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185293202	chr9:93428515-93428516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541019575	chr9:93428516-93428517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190056511	chr9:93428536-93428537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539595099	chr9:93428632-93428633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556621593	chr9:93428669-93428670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549473999	chr9:93428749-93428750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72733262	chr9:93428750-93428751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555212863	chr9:93428799-93428800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62558502	chr9:93428829-93428830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540811684	chr9:93428985-93428986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62558503	chr9:93429000-93429001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569479961	chr9:93429039-93429040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543100530	chr9:93429042-93429043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs118102062	chr9:93429065-93429066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528857496	chr9:93429066-93429067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549029628	chr9:93429114-93429115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552315303	chr9:93429126-93429127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528034843	chr9:93429161-93429162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565735145	chr9:93429162-93429163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534622272	chr9:93429174-93429175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570911003	chr9:93429177-93429178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76258130	chr9:93429248-93429249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547918515	chr9:93429257-93429258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549973088	chr9:93429275-93429276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568045326	chr9:93429334-93429335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116116213	chr9:93429336-93429337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555374747	chr9:93429342-93429343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565628688	chr9:93429363-93429364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78161035	chr9:93429373-93429374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536574517	chr9:93429374-93429375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558032882	chr9:93429389-93429390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35744061	chr9:93433227-93433228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571682200	chr9:93433234-93433235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560200052	chr9:93433272-93433273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532306126	chr9:93433359-93433360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6479615	chr9:93433370-93433371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs55652173	chr9:93433377-93433378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531344343	chr9:93433417-93433418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547885539	chr9:93433432-93433433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142836792	chr9:93433472-93433473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533558295	chr9:93433497-93433498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76623745	chr9:93433700-93433701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567081934	chr9:93433736-93433737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6479616	chr9:93433744-93433745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs753591	chr9:93433801-93433802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93427800-93429000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:93428400-93429000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:93429000-93429400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:93433200-93434400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr9:93433600-93434400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr9:93433800-93434400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:93434400-93439800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:93439800-93440600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr9:93444400-93444600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:93445000-93445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:93445400-93445600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:93445600-93447800	Enhancers	Fetal Brain Male	brain
13	chr9:93446400-93447800	Enhancers	Fetal Brain Female	brain
14	chr9:93448600-93449200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:93455200-93456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:93456400-93456600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:93456400-93456600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:93456400-93457200	ZNF genes & repeats	Fetal Kidney	kidney
19	chr9:93456600-93457200	Active TSS	Fetal Heart	heart
20	chr9:93456600-93460000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:93457000-93462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:93459600-93465200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:93459800-93460400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:93459800-93462400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr9:93460000-93460200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:93460400-93460600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:93460600-93461000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr9:93461000-93461600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr9:93461600-93461800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr9:93461800-93464200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:93462000-93463000	Enhancers	Placenta	Placenta
32	chr9:93462200-93462800	Bivalent/Poised TSS	A549	lung
33	chr9:93462400-93462600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:93462400-93464000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr9:93464000-93466000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:93464200-93465000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr9:93464600-93465400	Enhancers	Primary B cells from cord blood	blood
38	chr9:93464600-93465400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:93464800-93465400	Enhancers	Thymus	Thymus
40	chr9:93465000-93465400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr9:93465200-93465600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr9:93465400-93465600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:93465600-93466600	Enhancers	Primary neutrophils fromperipheralblood	blood

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