Variant report

Variant	nsv539986
Chromosome Location	chr9:9857456-9985419
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	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
3	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
4	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:

Extended variants
information (count: 4687 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:4687 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186166674	chr9:9857458-9857459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537165734	chr9:9857477-9857478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550698891	chr9:9857519-9857520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10978038	chr9:9857550-9857551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201828797	chr9:9857561-9857562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138856436	chr9:9857563-9857564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536895044	chr9:9857584-9857585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10978039	chr9:9857587-9857588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188717241	chr9:9857589-9857590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534548612	chr9:9857621-9857622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557807961	chr9:9857675-9857676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138493537	chr9:9857685-9857686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543528113	chr9:9857696-9857697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149646285	chr9:9857698-9857699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573746466	chr9:9857720-9857721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200512153	chr9:9857779-9857780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377090346	chr9:9857783-9857784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144320213	chr9:9857829-9857830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528409351	chr9:9857903-9857904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10978040	chr9:9857905-9857906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201356786	chr9:9857909-9857910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3050112	chr9:9857910-9857911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1408117	chr9:9857941-9857942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564922448	chr9:9857948-9857949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530844945	chr9:9857951-9857952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567487277	chr9:9857955-9857956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373900771	chr9:9857975-9857976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148772950	chr9:9858058-9858059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1408118	chr9:9858060-9858061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546175987	chr9:9858075-9858076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567024866	chr9:9858114-9858115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539354898	chr9:9858118-9858119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370669323	chr9:9858156-9858157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559326753	chr9:9858167-9858168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577689211	chr9:9858179-9858180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181497603	chr9:9858180-9858181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556741132	chr9:9858191-9858192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1951850	chr9:9858194-9858195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542431400	chr9:9858195-9858196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531783023	chr9:9858248-9858249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559516538	chr9:9858251-9858252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141178304	chr9:9858253-9858254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544884418	chr9:9858257-9858258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571662788	chr9:9858269-9858270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116621610	chr9:9858275-9858276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530801408	chr9:9858296-9858297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10816211	chr9:9858310-9858311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10816212	chr9:9858323-9858324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186185387	chr9:9858331-9858332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190756373	chr9:9858348-9858349	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:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9855600-9861000	Weak transcription	Dnd41	blood
2	chr9:9856200-9860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:9856200-9862400	Weak transcription	Fetal Thymus	thymus
4	chr9:9857400-9858400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:9860200-9861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:9860800-9861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:9861000-9862200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:9861000-9862200	Enhancers	Dnd41	blood
9	chr9:9861400-9862600	Enhancers	Primary hematopoietic stem cells	blood
10	chr9:9861600-9862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:9862000-9863000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:9862200-9862400	Active TSS	Thymus	Thymus
13	chr9:9862200-9862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:9862200-9862800	Flanking Active TSS	Dnd41	blood
15	chr9:9862400-9862800	Enhancers	Primary T cells from cord blood	blood
16	chr9:9862400-9862800	Flanking Active TSS	Thymus	Thymus
17	chr9:9862400-9863000	Enhancers	Fetal Thymus	thymus
18	chr9:9862600-9862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:9862800-9863600	Enhancers	Thymus	Thymus
20	chr9:9862800-9863800	Enhancers	Dnd41	blood
21	chr9:9863000-9863400	Weak transcription	Fetal Thymus	thymus
22	chr9:9863400-9863600	Enhancers	Fetal Thymus	thymus
23	chr9:9863600-9867800	Weak transcription	Fetal Thymus	thymus
24	chr9:9863600-9867800	Weak transcription	Thymus	Thymus
25	chr9:9863800-9867800	Weak transcription	Dnd41	blood
26	chr9:9867800-9868200	Enhancers	Fetal Thymus	thymus
27	chr9:9867800-9868200	Enhancers	Thymus	Thymus
28	chr9:9867800-9868200	Enhancers	Dnd41	blood
29	chr9:9873400-9874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:9874000-9874800	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:9874200-9874600	Enhancers	Dnd41	blood
32	chr9:9874200-9874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:9874600-9879200	Weak transcription	Dnd41	blood
34	chr9:9877600-9878400	Enhancers	Placenta	Placenta
35	chr9:9878400-9880000	Weak transcription	Placenta	Placenta
36	chr9:9879200-9880200	Enhancers	Dnd41	blood
37	chr9:9879600-9880000	Enhancers	Primary T cells from cord blood	blood
38	chr9:9879600-9880200	Enhancers	Fetal Thymus	thymus
39	chr9:9879600-9880200	Enhancers	Thymus	Thymus
40	chr9:9880000-9880400	Enhancers	Placenta	Placenta
41	chr9:9880400-9881600	Weak transcription	Placenta	Placenta
42	chr9:9881400-9882000	Enhancers	HMEC	breast
43	chr9:9881600-9881800	Enhancers	Placenta	Placenta
44	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:9888400-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:9889600-9890000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:9893800-9894400	Enhancers	HMEC	breast
50	chr9:9894000-9894400	Enhancers	Placenta	Placenta

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