Variant report

Variant	nsv613727
Chromosome Location	chr9:18920357-18960393
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:18943902..18945642-chr9:18949010..18951609,3	K562	blood:
2	chr9:18926118..18927929-chr9:18928691..18930681,2	K562	blood:
3	chr9:18920619..18922521-chr9:18924227..18925910,2	K562	blood:
4	chr9:18917515..18919753-chr9:18924648..18926162,2	K562	blood:
5	chr9:18926118..18927929-chr9:18928691..18930681,2	K562	blood:
6	chr9:18930120..18932657-chr9:19409759..19411895,2	K562	blood:
7	chr9:18943902..18945642-chr9:18949010..18951609,3	K562	blood:
8	chr9:18930120..18933009-chr9:19409759..19411895,3	K562	blood:
9	chr9:18920619..18922521-chr9:18924227..18925910,2	K562	blood:

No data

Extended variants
information (count: 2098 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2098 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1969933	chr9:18920357-18920358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs547567147	chr9:18920360-18920361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112375613	chr9:18920389-18920390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1969934	chr9:18920395-18920396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554881383	chr9:18920426-18920427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370860652	chr9:18920462-18920463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374050329	chr9:18920477-18920478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113105351	chr9:18920513-18920514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190225224	chr9:18920530-18920531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28598598	chr9:18920538-18920539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201683776	chr9:18920542-18920543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59935003	chr9:18920546-18920547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576485717	chr9:18920547-18920548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540750614	chr9:18920557-18920558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555055395	chr9:18920587-18920588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560448510	chr9:18920598-18920599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572636244	chr9:18920614-18920615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149252701	chr9:18920627-18920628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561673307	chr9:18920637-18920638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77764469	chr9:18920671-18920672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144433954	chr9:18920687-18920688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73645299	chr9:18920765-18920766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77327122	chr9:18920791-18920792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140059274	chr9:18920800-18920801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547926051	chr9:18920866-18920867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565720792	chr9:18920873-18920874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536473747	chr9:18920900-18920901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148802121	chr9:18920914-18920915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577903838	chr9:18920938-18920939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555981660	chr9:18920980-18920981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530236628	chr9:18920981-18920982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372889224	chr9:18920987-18920988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73645300	chr9:18920998-18920999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544989118	chr9:18921007-18921008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76057518	chr9:18921021-18921022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182870396	chr9:18921049-18921050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73645301	chr9:18921054-18921055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10963839	chr9:18921071-18921072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553061469	chr9:18921119-18921120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76214749	chr9:18921167-18921168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79347731	chr9:18921169-18921170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188729776	chr9:18921216-18921217	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146366080	chr9:18921236-18921237	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554873929	chr9:18921265-18921266	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576762324	chr9:18921284-18921285	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192827148	chr9:18921311-18921312	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577578046	chr9:18921335-18921336	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565244215	chr9:18921348-18921349	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10963840	chr9:18921363-18921364	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10811063	chr9:18921386-18921387	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18897400-18920400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:18909800-18924400	Weak transcription	Aorta	Aorta
3	chr9:18911000-18922200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:18912000-18922200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:18912400-18922000	Weak transcription	HSMM	muscle
6	chr9:18912400-18935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:18917800-18922000	Weak transcription	Right Atrium	heart
8	chr9:18919400-18922200	Enhancers	Fetal Heart	heart
9	chr9:18919400-18922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18919600-18920400	Weak transcription	Fetal Lung	lung
11	chr9:18919800-18920600	Enhancers	Esophagus	oesophagus
12	chr9:18919800-18920600	Enhancers	Fetal Stomach	stomach
13	chr9:18919800-18920600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr9:18919800-18920800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:18919800-18920800	Enhancers	NHEK	skin
16	chr9:18919800-18921000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:18919800-18922600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:18919800-18922600	Enhancers	Colon Smooth Muscle	Colon
19	chr9:18919800-18923000	Enhancers	Osteobl	bone
20	chr9:18919800-18923200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:18919800-18923600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:18919800-18923800	Enhancers	Fetal Muscle Leg	muscle
23	chr9:18920000-18920400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:18920200-18921000	Enhancers	Adipose Nuclei	Adipose
25	chr9:18920200-18922200	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:18920200-18924000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:18920400-18920600	Enhancers	Fetal Lung	lung
28	chr9:18920400-18920600	Enhancers	Left Ventricle	heart
29	chr9:18920400-18920800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr9:18920400-18921200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:18920400-18921600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:18920600-18921400	Weak transcription	Fetal Lung	lung
33	chr9:18920600-18921400	Weak transcription	Fetal Stomach	stomach
34	chr9:18920600-18921400	Weak transcription	Left Ventricle	heart
35	chr9:18920600-18922200	Weak transcription	Esophagus	oesophagus
36	chr9:18920600-18922200	Enhancers	HSMMtube	muscle
37	chr9:18920800-18923600	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:18921000-18922000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:18921000-18922000	Weak transcription	Adipose Nuclei	Adipose
40	chr9:18921400-18922000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:18921400-18922200	Enhancers	Fetal Lung	lung
42	chr9:18921400-18922600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:18921400-18922800	Enhancers	Left Ventricle	heart
44	chr9:18921400-18923200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:18921400-18923800	Enhancers	Fetal Stomach	stomach
46	chr9:18921600-18922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:18921800-18922600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr9:18922000-18922200	Enhancers	HSMM	muscle
49	chr9:18922000-18922400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:18922000-18922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links