Variant report

Variant	nsv893474
Chromosome Location	chr9:78753324-78784325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:78762924..78764913-chr9:78765056..78767232,2	K562	blood:
2	chr9:78772507..78774901-chr9:78778089..78780004,2	K562	blood:
3	chr9:78762924..78764913-chr9:78765056..78767232,2	K562	blood:
4	chr9:78772507..78774901-chr9:78778089..78780004,2	K562	blood:

Extended variants
information (count: 1094 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1339246	chr9:78753324-78753325	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182375265	chr9:78753326-78753327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185501017	chr9:78753346-78753347	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571993819	chr9:78753365-78753366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534526190	chr9:78753388-78753389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373685718	chr9:78753432-78753433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554491484	chr9:78753481-78753482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574191952	chr9:78753515-78753516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367788620	chr9:78753558-78753559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536849580	chr9:78753618-78753619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371386184	chr9:78753621-78753622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11144763	chr9:78753667-78753668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs5898453	chr9:78753887-78753888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1338743	chr9:78753917-78753918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1338744	chr9:78753921-78753922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190360093	chr9:78753964-78753965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144344185	chr9:78754033-78754034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112866130	chr9:78754075-78754076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575493407	chr9:78754105-78754106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35615918	chr9:78754106-78754107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529854445	chr9:78754182-78754183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367968477	chr9:78754214-78754215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549909878	chr9:78754216-78754217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182952275	chr9:78754280-78754281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188681345	chr9:78754302-78754303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551884639	chr9:78754338-78754339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149204672	chr9:78754348-78754349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75322552	chr9:78754388-78754389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374224661	chr9:78754405-78754406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112474964	chr9:78754436-78754437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544570288	chr9:78754512-78754513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1411954	chr9:78754538-78754539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151290442	chr9:78754575-78754576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79527218	chr9:78754587-78754588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372178115	chr9:78754652-78754653	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150474593	chr9:78754724-78754725	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116385086	chr9:78754732-78754733	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1338745	chr9:78754798-78754799	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571757873	chr9:78754882-78754883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540581083	chr9:78754884-78754885	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561036813	chr9:78754925-78754926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376494344	chr9:78754933-78754934	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141200624	chr9:78755009-78755010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562903319	chr9:78755062-78755063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193284566	chr9:78755065-78755066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576680743	chr9:78755066-78755067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1338746	chr9:78755100-78755101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532331484	chr9:78755138-78755139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565322184	chr9:78755142-78755143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551945945	chr9:78755143-78755144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78688000-78774000	Weak transcription	Left Ventricle	heart
2	chr9:78724000-78767000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:78725400-78766400	Weak transcription	Thymus	Thymus
4	chr9:78730200-78755000	Weak transcription	Aorta	Aorta
5	chr9:78745400-78758800	Weak transcription	Primary T cells from cord blood	blood
6	chr9:78748400-78769200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:78750600-78753600	Enhancers	Ovary	ovary
8	chr9:78751600-78773200	Weak transcription	Fetal Stomach	stomach
9	chr9:78751800-78753600	Enhancers	NHLF	lung
10	chr9:78751800-78753800	Enhancers	Fetal Lung	lung
11	chr9:78752200-78754400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:78752200-78772000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:78752400-78773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:78752600-78753600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:78752800-78753600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:78752800-78753600	Strong transcription	Fetal Intestine Small	intestine
17	chr9:78753000-78753400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr9:78753000-78753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:78753000-78754800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:78753200-78754200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:78753400-78760800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:78753600-78765000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:78753600-78766800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:78753600-78773400	Weak transcription	Ovary	ovary
25	chr9:78754200-78755000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:78754400-78754600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:78754600-78755000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:78754800-78755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:78755000-78755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:78757200-78776400	Weak transcription	Psoas Muscle	Psoas
31	chr9:78758000-78758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr9:78758000-78759600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr9:78758200-78759600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr9:78758800-78759200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:78758800-78760600	Strong transcription	Primary T cells from cord blood	blood
36	chr9:78759200-78762200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr9:78759400-78759600	Enhancers	Adipose Nuclei	Adipose
38	chr9:78759600-78761800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr9:78759600-78762200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr9:78759600-78764600	Weak transcription	Adipose Nuclei	Adipose
41	chr9:78760000-78760400	Weak transcription	Pancreas	Pancrea
42	chr9:78760400-78760600	Enhancers	Pancreas	Pancrea
43	chr9:78760400-78761000	Enhancers	Fetal Muscle Leg	muscle
44	chr9:78760600-78771800	Weak transcription	Primary T cells from cord blood	blood
45	chr9:78760600-78773800	Weak transcription	Pancreas	Pancrea
46	chr9:78760800-78761000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:78760800-78765000	Weak transcription	Fetal Lung	lung
48	chr9:78761000-78765000	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:78761000-78766000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:78761800-78763000	Enhancers	Monocytes-CD14+_RO01746	blood

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