Variant report

Variant	nsv824841
Chromosome Location	chr9:6793104-6795060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142419414	chr9:6793115-6793116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76274844	chr9:6793119-6793120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531909681	chr9:6793120-6793121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374114332	chr9:6793141-6793142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200204784	chr9:6793145-6793146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568124558	chr9:6793146-6793147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201685619	chr9:6793163-6793164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201512588	chr9:6793166-6793167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193059898	chr9:6793201-6793202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534026022	chr9:6793202-6793203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558461280	chr9:6793230-6793231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570770871	chr9:6793233-6793234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146806533	chr9:6793251-6793252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549845380	chr9:6793269-6793270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556454746	chr9:6793319-6793320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563225836	chr9:6793325-6793326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140629434	chr9:6793329-6793330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35310377	chr9:6793344-6793345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529624936	chr9:6793347-6793348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549666203	chr9:6793366-6793367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560930224	chr9:6793443-6793444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185238899	chr9:6793459-6793460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553868510	chr9:6793460-6793461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189793515	chr9:6793496-6793497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546426380	chr9:6793501-6793502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201827540	chr9:6793531-6793532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564530119	chr9:6793561-6793562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111628257	chr9:6793600-6793601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543722726	chr9:6793608-6793609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7851230	chr9:6793625-6793626	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181364648	chr9:6793640-6793641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547370914	chr9:6793642-6793643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566203390	chr9:6793685-6793686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113982971	chr9:6793688-6793689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537756245	chr9:6793702-6793703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111278825	chr9:6793707-6793708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185293093	chr9:6793731-6793732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556528506	chr9:6793741-6793742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112930363	chr9:6793748-6793749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7851383	chr9:6793789-6793790	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537147786	chr9:6793790-6793791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374286022	chr9:6793794-6793795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7850536	chr9:6793795-6793796	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553488012	chr9:6793802-6793803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7851491	chr9:6793828-6793829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377724352	chr9:6793835-6793836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545591976	chr9:6793856-6793857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557800758	chr9:6793965-6793966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188660759	chr9:6793966-6793967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576252069	chr9:6793971-6793972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6774200-6806200	Weak transcription	Aorta	Aorta
2	chr9:6781200-6794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:6783800-6794000	Weak transcription	Dnd41	blood
4	chr9:6783800-6799000	Weak transcription	Spleen	Spleen
5	chr9:6784800-6793800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:6785200-6793800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:6786000-6794200	Weak transcription	GM12878-XiMat	blood
8	chr9:6787400-6793200	Weak transcription	Placenta	Placenta
9	chr9:6787400-6810000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:6787800-6793800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:6788200-6810600	Weak transcription	Small Intestine	intestine
12	chr9:6788200-6819400	Weak transcription	K562	blood
13	chr9:6788400-6794000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:6788600-6794000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:6788600-6794000	Weak transcription	Fetal Lung	lung
16	chr9:6788800-6794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:6789000-6793200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:6789000-6793400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:6789000-6793600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:6789000-6793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:6789000-6793600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:6789000-6793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:6789000-6794000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:6789000-6794000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:6789000-6794000	Weak transcription	Adipose Nuclei	Adipose
26	chr9:6789000-6794000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:6789000-6794000	Weak transcription	Brain Substantia Nigra	brain
28	chr9:6789000-6794000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:6789000-6794000	Weak transcription	Esophagus	oesophagus
30	chr9:6789000-6794000	Weak transcription	Fetal Heart	heart
31	chr9:6789000-6794000	Weak transcription	Left Ventricle	heart
32	chr9:6789000-6794000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:6789000-6794000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:6789000-6794000	Weak transcription	HSMM	muscle
35	chr9:6789000-6794200	Weak transcription	NHEK	skin
36	chr9:6789000-6794400	Weak transcription	Right Atrium	heart
37	chr9:6789000-6796400	Weak transcription	Brain Angular Gyrus	brain
38	chr9:6789000-6796400	Weak transcription	Psoas Muscle	Psoas
39	chr9:6789000-6797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:6789000-6797600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:6789000-6799000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:6789000-6799200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:6789000-6799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr9:6789000-6805400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:6789000-6805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr9:6789000-6805800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:6789000-6805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:6789000-6806600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr9:6789000-6806600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:6789000-6808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links