Variant report

Variant	nsv613359
Chromosome Location	chr9:9904481-10008130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
2	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
3	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
4	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:

Extended variants
information (count: 3315 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:3315 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978074	chr9:9904481-9904482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13284014	chr9:9904498-9904499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150754642	chr9:9904517-9904518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573545624	chr9:9904522-9904523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186557839	chr9:9904553-9904554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559137787	chr9:9904557-9904558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191559500	chr9:9904559-9904560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551566834	chr9:9904576-9904577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139013770	chr9:9904581-9904582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372900196	chr9:9904594-9904595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10978075	chr9:9904595-9904596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10816220	chr9:9904611-9904612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547709680	chr9:9904615-9904616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149870889	chr9:9904634-9904635	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546979251	chr9:9904636-9904637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147145099	chr9:9904643-9904644	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79969954	chr9:9904648-9904649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558653079	chr9:9904687-9904688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs13284337	chr9:9904698-9904699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551496606	chr9:9904700-9904701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147444410	chr9:9904710-9904711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140570320	chr9:9904722-9904723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79194430	chr9:9904729-9904730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376145632	chr9:9904732-9904733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114506144	chr9:9904748-9904749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377755124	chr9:9904760-9904761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144523206	chr9:9904775-9904776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572945972	chr9:9904787-9904788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs537198817	chr9:9904799-9904800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549490290	chr9:9904806-9904807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373439897	chr9:9904807-9904808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530715872	chr9:9904816-9904817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544441979	chr9:9904843-9904844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377706667	chr9:9904877-9904878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77174775	chr9:9904879-9904880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555013400	chr9:9904883-9904884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10816221	chr9:9904893-9904894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566551263	chr9:9904937-9904938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187117442	chr9:9904938-9904939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552241384	chr9:9904944-9904945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77901283	chr9:9904970-9904971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538000535	chr9:9904984-9904985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555154300	chr9:9905021-9905022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568625423	chr9:9905050-9905051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534528730	chr9:9905057-9905058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73643814	chr9:9905093-9905094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs17302519	chr9:9905096-9905097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77167072	chr9:9905127-9905128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527361790	chr9:9905133-9905134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368622507	chr9:9905140-9905141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:9901600-9904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:9903800-9904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:9904000-9905000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
9	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:9913200-9913800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:9913800-9914400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:9914400-9914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:9914600-9915000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:9918600-9920800	Enhancers	Brain Germinal Matrix	brain
22	chr9:9919200-9920400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:9919200-9920400	Enhancers	Fetal Brain Male	brain
24	chr9:9919400-9919600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:9919400-9919800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:9919400-9919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:9919400-9920400	Enhancers	Fetal Brain Female	brain
28	chr9:9919600-9920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:9919800-9920000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:9919800-9920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:9920000-9920200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr9:9920200-9921000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:9920200-9921000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr9:9920600-9921000	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:9921000-9921200	Enhancers	Duodenum Mucosa	Duodenum
36	chr9:9922000-9922200	Enhancers	Primary hematopoietic stem cells	blood
37	chr9:9922000-9922400	Active TSS	Duodenum Mucosa	Duodenum
38	chr9:9922000-9924000	Enhancers	Small Intestine	intestine
39	chr9:9922000-9924200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:9922200-9924200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:9922400-9922600	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:9922400-9924000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:9922600-9923600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr9:9923600-9924800	Active TSS	Duodenum Mucosa	Duodenum
45	chr9:9924000-9924400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:9924000-9924800	Active TSS	Primary T cells fromperipheralblood	blood
47	chr9:9924000-9924800	Active TSS	Fetal Lung	lung
48	chr9:9924000-9926800	Weak transcription	Small Intestine	intestine
49	chr9:9924200-9924400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr9:9924200-9924600	Active TSS	Primary monocytes fromperipheralblood	blood

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