Variant report

Variant	nsv613361
Chromosome Location	chr9:9910922-9962204
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	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
4	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:

Extended variants
information (count: 1531 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1531 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4741000	chr9:9910922-9910923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541066406	chr9:9910969-9910970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76705118	chr9:9910983-9910984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10978080	chr9:9910993-9910994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs187177460	chr9:9910996-9910997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543229038	chr9:9911004-9911005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573108177	chr9:9911045-9911046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529113456	chr9:9911049-9911050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549254551	chr9:9911120-9911121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74686387	chr9:9911143-9911144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528487350	chr9:9911159-9911160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551789008	chr9:9911173-9911174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190455502	chr9:9911178-9911179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377034586	chr9:9911181-9911182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141791658	chr9:9911253-9911254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16930559	chr9:9911283-9911284	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557190483	chr9:9911285-9911286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567479963	chr9:9911288-9911289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536450508	chr9:9911289-9911290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553247948	chr9:9911352-9911353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559027916	chr9:9911357-9911358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575986306	chr9:9911411-9911412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540652811	chr9:9911414-9911415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373323003	chr9:9911470-9911471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386732490	chr9:9911471-9911472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377528504	chr9:9911477-9911478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375464338	chr9:9911489-9911490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369043028	chr9:9911490-9911491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372610809	chr9:9911491-9911492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375992475	chr9:9911492-9911493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10816225	chr9:9911528-9911529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542886422	chr9:9911568-9911569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10759103	chr9:9911656-9911657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528415520	chr9:9911692-9911693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150549713	chr9:9911738-9911739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182988863	chr9:9911749-9911750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73402611	chr9:9911812-9911813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551005723	chr9:9911815-9911816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115962587	chr9:9911820-9911821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536437952	chr9:9911822-9911823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553184295	chr9:9911825-9911826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10978081	chr9:9911850-9911851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187460149	chr9:9911859-9911860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35948882	chr9:9911910-9911911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531975940	chr9:9911917-9911918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552133440	chr9:9911930-9911931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193222231	chr9:9911936-9911937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111248987	chr9:9911937-9911938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116572072	chr9:9911943-9911944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531497482	chr9:9911955-9911956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:9913200-9913800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:9913800-9914400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:9914400-9914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:9914600-9915000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:9918600-9920800	Enhancers	Brain Germinal Matrix	brain
12	chr9:9919200-9920400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:9919200-9920400	Enhancers	Fetal Brain Male	brain
14	chr9:9919400-9919600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:9919400-9919800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:9919400-9919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr9:9919400-9920400	Enhancers	Fetal Brain Female	brain
18	chr9:9919600-9920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:9919800-9920000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:9919800-9920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:9920000-9920200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:9920200-9921000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:9920200-9921000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr9:9920600-9921000	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:9921000-9921200	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:9922000-9922200	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:9922000-9922400	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:9922000-9924000	Enhancers	Small Intestine	intestine
29	chr9:9922000-9924200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:9922200-9924200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:9922400-9922600	Enhancers	Duodenum Mucosa	Duodenum
32	chr9:9922400-9924000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:9922600-9923600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:9923600-9924800	Active TSS	Duodenum Mucosa	Duodenum
35	chr9:9924000-9924400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:9924000-9924800	Active TSS	Primary T cells fromperipheralblood	blood
37	chr9:9924000-9924800	Active TSS	Fetal Lung	lung
38	chr9:9924000-9926800	Weak transcription	Small Intestine	intestine
39	chr9:9924200-9924400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr9:9924200-9924600	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr9:9924200-9924600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:9924200-9924600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:9924200-9924600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr9:9924200-9924600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:9924200-9924800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:9924200-9924800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:9924200-9924800	Active TSS	Adipose Nuclei	Adipose
48	chr9:9924200-9924800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:9924200-9924800	Active TSS	Placenta	Placenta
50	chr9:9924200-9924800	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links