Variant report

Variant	nsv539983
Chromosome Location	chr9:9658670-9780975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
2	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
3	chr1:11968121..11968918-chr9:9730851..9731851,3	HCT-116	colon:

Variant related genes	Relation type
ENSG00000199347	chromatin interactions

Extended variants
information (count: 2033 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2033 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148088923	chr9:9667636-9667637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78452103	chr9:9667638-9667639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373567699	chr9:9667660-9667661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184924808	chr9:9667703-9667704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141083897	chr9:9667705-9667706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111459125	chr9:9667727-9667728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188936837	chr9:9667742-9667743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551661515	chr9:9667775-9667776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569803039	chr9:9667778-9667779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537295738	chr9:9667800-9667801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548756758	chr9:9667850-9667851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16930016	chr9:9667895-9667896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527246400	chr9:9667900-9667901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138970077	chr9:9667904-9667905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552622282	chr9:9667919-9667920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181668184	chr9:9667931-9667932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558432113	chr9:9667952-9667953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184637995	chr9:9667958-9667959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569628258	chr9:9667959-9667960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10739195	chr9:9667967-9667968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189398898	chr9:9667977-9667978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575989168	chr9:9670605-9670606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539476713	chr9:9670610-9670611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542970730	chr9:9670640-9670641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114465024	chr9:9670654-9670655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574772920	chr9:9670655-9670656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542055370	chr9:9670700-9670701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191919291	chr9:9670710-9670711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576339276	chr9:9670751-9670752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560755024	chr9:9670764-9670765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527855242	chr9:9670765-9670766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535607641	chr9:9670800-9670801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544935951	chr9:9679031-9679032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548264684	chr9:9679034-9679035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149517996	chr9:9679044-9679045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12686302	chr9:9679061-9679062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534104108	chr9:9679067-9679068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192638199	chr9:9679079-9679080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184432035	chr9:9679091-9679092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187766045	chr9:9679112-9679113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556273986	chr9:9679114-9679115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200056615	chr9:9679116-9679117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568634804	chr9:9679121-9679122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568044173	chr9:9679122-9679123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201905009	chr9:9679134-9679135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201356962	chr9:9679136-9679137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535470125	chr9:9679159-9679160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542803867	chr9:9679195-9679196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537505146	chr9:9679220-9679221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370470852	chr9:9679230-9679231	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Gastric cancer	22315472	CNVD
Chordoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9667600-9668000	Enhancers	Aorta	Aorta
2	chr9:9670600-9670800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:9679000-9680200	Enhancers	Liver	Liver
4	chr9:9680200-9681200	Weak transcription	Liver	Liver
5	chr9:9681200-9681400	Enhancers	Liver	Liver
6	chr9:9714000-9714800	Enhancers	Fetal Kidney	kidney
7	chr9:9718200-9718400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:9718400-9719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:9718600-9720000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:9719000-9719800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr9:9729200-9731200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:9730200-9730600	Enhancers	GM12878-XiMat	blood
13	chr9:9745200-9750800	Enhancers	HUVEC	blood vessel
14	chr9:9747800-9748600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:9748600-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:9749600-9751000	Enhancers	Fetal Kidney	kidney
17	chr9:9750600-9751200	Enhancers	Liver	Liver
18	chr9:9751200-9751400	Flanking Active TSS	Liver	Liver
19	chr9:9751400-9751600	Enhancers	Liver	Liver
20	chr9:9751600-9751800	Flanking Active TSS	Liver	Liver
21	chr9:9751800-9753600	Enhancers	Liver	Liver
22	chr9:9752200-9754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:9752200-9754800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:9752400-9752800	Enhancers	Rectal Smooth Muscle	rectum
25	chr9:9752400-9753600	Enhancers	HepG2	liver
26	chr9:9752600-9753400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:9752600-9754000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:9752800-9753400	Enhancers	Adipose Nuclei	Adipose
29	chr9:9752800-9753400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:9752800-9753600	Enhancers	Brain Hippocampus Middle	brain
31	chr9:9753400-9754400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:9754200-9754600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:9754200-9755200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:9754400-9754600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:9754400-9755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:9756000-9756600	Enhancers	Fetal Heart	heart
37	chr9:9764800-9765000	Enhancers	Aorta	Aorta
38	chr9:9765000-9778800	Weak transcription	Aorta	Aorta
39	chr9:9775400-9776200	Enhancers	HUVEC	blood vessel
40	chr9:9776200-9776600	Flanking Active TSS	HUVEC	blood vessel
41	chr9:9776200-9776800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:9776600-9779000	Enhancers	HUVEC	blood vessel
43	chr9:9778400-9778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:9778400-9778800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:9779000-9782000	Weak transcription	HUVEC	blood vessel
46	chr9:9779400-9780000	Enhancers	NH-A	brain

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