Variant report

Variant	nsv892592
Chromosome Location	chr9:13787648-13859052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13842636..13844201-chr9:13847494..13849410,2	K562	blood:
2	chr9:13837248..13839825-chr9:13847356..13850243,2	MCF-7	breast:
3	chr9:13853291..13855822-chr9:13857437..13860542,3	K562	blood:
4	chr9:13809014..13811930-chr9:13812607..13815192,2	MCF-7	breast:
5	chr9:13851030..13853647-chr9:13854118..13856887,2	MCF-7	breast:
6	chr9:13837248..13839825-chr9:13847356..13850243,2	MCF-7	breast:
7	chr9:13809014..13811930-chr9:13812607..13815192,2	MCF-7	breast:
8	chr9:13853960..13855766-chr9:13858743..13860340,2	MCF-7	breast:
9	chr9:13853291..13855822-chr9:13857437..13860542,3	K562	blood:
10	chr9:13842636..13844201-chr9:13847494..13849410,2	K562	blood:
11	chr9:13853960..13855766-chr9:13858743..13860340,2	MCF-7	breast:
12	chr9:13851030..13853647-chr9:13854118..13856887,2	MCF-7	breast:

No data

Extended variants
information (count: 3182 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3182 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10810035	chr9:13787648-13787649	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184891795	chr9:13787677-13787678	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552879868	chr9:13787688-13787689	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189155646	chr9:13787691-13787692	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544622808	chr9:13787734-13787735	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181053411	chr9:13787756-13787757	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530525091	chr9:13787788-13787789	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544340779	chr9:13787790-13787791	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187132231	chr9:13787805-13787806	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529547572	chr9:13787807-13787808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368949732	chr9:13787812-13787813	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs137968436	chr9:13787822-13787823	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566397337	chr9:13787826-13787827	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115718773	chr9:13787842-13787843	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551492826	chr9:13787843-13787844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143525886	chr9:13787889-13787890	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545679890	chr9:13787892-13787893	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557466918	chr9:13787895-13787896	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567402508	chr9:13787964-13787965	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536065161	chr9:13787980-13787981	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552718467	chr9:13787993-13787994	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12377097	chr9:13788100-13788101	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190783455	chr9:13788135-13788136	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530624964	chr9:13788144-13788145	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572813896	chr9:13788167-13788168	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544857685	chr9:13788181-13788182	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558571020	chr9:13788200-13788201	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12377109	chr9:13788248-13788249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375913047	chr9:13788250-13788251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543849477	chr9:13788257-13788258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564342953	chr9:13788293-13788294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12377146	chr9:13788319-13788320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181923309	chr9:13788336-13788337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543259240	chr9:13788377-13788378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559944791	chr9:13788417-13788418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367715820	chr9:13788432-13788433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561060374	chr9:13788433-13788434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185710904	chr9:13788454-13788455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528795914	chr9:13788455-13788456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190518481	chr9:13788463-13788464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565428532	chr9:13788477-13788478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182995257	chr9:13788486-13788487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530968074	chr9:13788521-13788522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201556760	chr9:13788549-13788550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58932157	chr9:13788585-13788586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550674119	chr9:13788595-13788596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567439241	chr9:13788655-13788656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188437288	chr9:13788658-13788659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56166354	chr9:13788659-13788660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148571083	chr9:13788661-13788662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13779000-13791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:13786200-13787800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:13786200-13788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:13786600-13787800	Enhancers	Fetal Brain Female	brain
5	chr9:13787000-13788000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:13787000-13788000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr9:13787000-13788000	Flanking Active TSS	NHLF	lung
8	chr9:13787000-13788200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:13787000-13788200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:13787200-13787800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
11	chr9:13787200-13787800	Flanking Active TSS	Aorta	Aorta
12	chr9:13787200-13787800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr9:13787200-13787800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:13787200-13787800	Enhancers	HUVEC	blood vessel
15	chr9:13787200-13788000	Active TSS	Brain Substantia Nigra	brain
16	chr9:13787200-13788000	Flanking Active TSS	Fetal Lung	lung
17	chr9:13787200-13788000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr9:13787200-13788000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr9:13787200-13788400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:13787200-13788400	Enhancers	Fetal Stomach	stomach
21	chr9:13787400-13787800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:13787400-13787800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:13787400-13787800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:13787400-13787800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:13787400-13787800	Flanking Active TSS	Fetal Kidney	kidney
26	chr9:13787400-13787800	Active TSS	Fetal Muscle Trunk	muscle
27	chr9:13787400-13787800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr9:13787400-13787800	Active TSS	Ovary	ovary
29	chr9:13787400-13787800	Active TSS	Right Ventricle	heart
30	chr9:13787400-13787800	Enhancers	HepG2	liver
31	chr9:13787400-13787800	Flanking Active TSS	NH-A	brain
32	chr9:13787400-13788000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:13787400-13788000	Active TSS	Brain Angular Gyrus	brain
34	chr9:13787400-13788000	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:13787400-13788000	Active TSS	Psoas Muscle	Psoas
36	chr9:13787400-13788000	Active TSS	Stomach Smooth Muscle	stomach
37	chr9:13787400-13788000	Flanking Active TSS	HSMMtube	muscle
38	chr9:13787400-13788000	Bivalent/Poised TSS	Osteobl	bone
39	chr9:13787400-13788200	Enhancers	Liver	Liver
40	chr9:13787600-13787800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr9:13787600-13787800	Active TSS	Right Atrium	heart
42	chr9:13787600-13788000	Active TSS	Brain Anterior Caudate	brain
43	chr9:13787600-13788000	Active TSS	Brain Hippocampus Middle	brain
44	chr9:13787600-13788000	Flanking Active TSS	HSMM	muscle
45	chr9:13787600-13788000	Active TSS	NHDF-Ad	bronchial
46	chr9:13787600-13790400	Enhancers	Fetal Heart	heart
47	chr9:13787600-13791600	Weak transcription	Left Ventricle	heart
48	chr9:13787800-13788000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr9:13787800-13788000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:13787800-13788000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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