Variant report

Variant	nsv613636
Chromosome Location	chr9:13936438-13975480
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13964420..13966968-chr9:14292952..14294647,2	MCF-7	breast:
2	chr9:13896594..13899401-chr9:13941918..13943557,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-4	chr9:13944374-13944450	NR_038194
2	lnc-C9orf146-4	chr9:13945391-13945606	NR_038194
3	lnc-C9orf146-4	chr9:13945391-13945609	ENSG00000205636.3
4	lnc-C9orf146-4	chr9:13944374-13944450	ENSG00000205636.3

No data

Extended variants
information (count: 1776 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1776 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17192270	chr9:13936438-13936439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546857895	chr9:13936486-13936487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78006689	chr9:13936506-13936507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554717902	chr9:13936540-13936541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568275455	chr9:13936544-13936545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534047680	chr9:13936565-13936566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553848302	chr9:13936607-13936608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576895680	chr9:13936628-13936629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545946344	chr9:13936647-13936648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144958388	chr9:13936681-13936682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183390953	chr9:13936707-13936708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544494454	chr9:13936713-13936714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373610519	chr9:13936716-13936717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561490983	chr9:13936731-13936732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76140791	chr9:13936748-13936749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540517691	chr9:13936756-13936757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568045000	chr9:13936777-13936778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532351490	chr9:13936850-13936851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75888487	chr9:13936852-13936853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35684545	chr9:13936859-13936860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553774441	chr9:13936863-13936864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187557008	chr9:13936867-13936868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115488561	chr9:13936965-13936966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114528860	chr9:13936997-13936998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534120276	chr9:13937015-13937016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148549687	chr9:13937021-13937022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535110527	chr9:13937041-13937042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191152768	chr9:13937045-13937046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539461192	chr9:13937050-13937051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556159817	chr9:13937063-13937064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76373578	chr9:13937095-13937096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16931157	chr9:13937099-13937100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77211556	chr9:13937111-13937112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28729653	chr9:13937115-13937116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182274943	chr9:13937127-13937128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79094014	chr9:13937139-13937140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11791610	chr9:13937140-13937141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373514737	chr9:13937162-13937163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370804168	chr9:13937180-13937181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543476987	chr9:13937181-13937182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374975902	chr9:13937184-13937185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566835743	chr9:13937199-13937200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185132612	chr9:13937205-13937206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17192340	chr9:13937311-13937312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34283522	chr9:13937354-13937355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397893943	chr9:13937362-13937363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144444696	chr9:13937373-13937374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7865585	chr9:13937375-13937376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560796090	chr9:13937392-13937393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79323066	chr9:13937401-13937402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13924200-13938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13933000-13937400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:13933000-13937800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:13933200-13937000	Weak transcription	Fetal Lung	lung
5	chr9:13933400-13938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:13933600-13938200	Weak transcription	Fetal Heart	heart
7	chr9:13933600-13938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:13933600-13939000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:13933600-13939600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:13933600-13939600	Weak transcription	Left Ventricle	heart
11	chr9:13933600-13961600	Weak transcription	Psoas Muscle	Psoas
12	chr9:13934800-13938800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:13936200-13942000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:13937000-13937200	Enhancers	Fetal Lung	lung
15	chr9:13937200-13938000	Weak transcription	Fetal Lung	lung
16	chr9:13937400-13939400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:13937400-13940000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:13937800-13939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:13938000-13939800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:13938000-13940000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:13938000-13940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:13938000-13943000	Enhancers	Fetal Lung	lung
23	chr9:13938200-13938400	Enhancers	Right Ventricle	heart
24	chr9:13938200-13939800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:13938200-13940800	Enhancers	HMEC	breast
26	chr9:13938200-13941000	Enhancers	Fetal Heart	heart
27	chr9:13938400-13939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:13938400-13940800	Enhancers	Osteobl	bone
29	chr9:13938400-13948000	Weak transcription	Right Ventricle	heart
30	chr9:13938600-13939000	Enhancers	HSMMtube	muscle
31	chr9:13938600-13939800	Enhancers	Fetal Stomach	stomach
32	chr9:13938600-13940000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:13938600-13940000	Enhancers	Hela-S3	cervix
34	chr9:13938600-13940000	Enhancers	NHDF-Ad	bronchial
35	chr9:13938600-13940200	Enhancers	HUVEC	blood vessel
36	chr9:13938600-13942000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:13938800-13939000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:13938800-13939400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:13938800-13939600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:13938800-13939600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:13938800-13939800	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:13938800-13940000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:13938800-13940000	Enhancers	Aorta	Aorta
44	chr9:13938800-13940200	Enhancers	Ovary	ovary
45	chr9:13938800-13940600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:13938800-13940600	Enhancers	HSMM	muscle
47	chr9:13939000-13939400	Weak transcription	HSMMtube	muscle
48	chr9:13939000-13939600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:13939000-13939600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr9:13939000-13939800	Enhancers	NHEK	skin

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