Variant report

Variant	nsv1015319
Chromosome Location	chr9:13931836-13970419
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	chr9:13896594..13899401-chr9:13941918..13943557,2	K562	blood:
2	chr9:13964420..13966968-chr9:14292952..14294647,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 1782 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1782 , 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	rs4478664	chr9:13931836-13931837	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201862134	chr9:13931865-13931866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193260118	chr9:13931914-13931915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561573720	chr9:13931919-13931920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542081612	chr9:13931959-13931960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184330551	chr9:13931970-13931971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547301950	chr9:13931985-13931986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117319017	chr9:13931996-13931997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10122002	chr9:13932020-13932021	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560525803	chr9:13932049-13932050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552165598	chr9:13932051-13932052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189058367	chr9:13932055-13932056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80171143	chr9:13932062-13932063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181149948	chr9:13932063-13932064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568279038	chr9:13932066-13932067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533724636	chr9:13932093-13932094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185336015	chr9:13932113-13932114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529785764	chr9:13932174-13932175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539930761	chr9:13932247-13932248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553904345	chr9:13932262-13932263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577078350	chr9:13932293-13932294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10119201	chr9:13932328-13932329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556196123	chr9:13932345-13932346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576103154	chr9:13932351-13932352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528687236	chr9:13932369-13932370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541984865	chr9:13932374-13932375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561608429	chr9:13932477-13932478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35246532	chr9:13932495-13932496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199901646	chr9:13932514-13932515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200963532	chr9:13932520-13932521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189939159	chr9:13932552-13932553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530510115	chr9:13932576-13932577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368505959	chr9:13932581-13932582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560698298	chr9:13932584-13932585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180685654	chr9:13932588-13932589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546086134	chr9:13932593-13932594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531093822	chr9:13932634-13932635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562584832	chr9:13932642-13932643	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10116057	chr9:13932658-13932659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548690149	chr9:13932659-13932660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568481957	chr9:13932667-13932668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs142768539	chr9:13932714-13932715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186124764	chr9:13932742-13932743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570611516	chr9:13932748-13932749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372548120	chr9:13932755-13932756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556485682	chr9:13932766-13932767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs377084493	chr9:13932786-13932787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567658098	chr9:13932792-13932793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569701118	chr9:13932797-13932798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535127991	chr9:13932801-13932802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13916000-13932800	Weak transcription	Psoas Muscle	Psoas
2	chr9:13924200-13938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:13924800-13932400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:13929200-13932400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:13931600-13933000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:13931600-13935800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:13932000-13933600	Enhancers	Adipose Nuclei	Adipose
8	chr9:13932400-13932600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:13932400-13933600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:13932600-13933000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:13932600-13933000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr9:13932600-13933600	Enhancers	Fetal Heart	heart
13	chr9:13932600-13933600	Enhancers	Left Ventricle	heart
14	chr9:13932600-13933600	Enhancers	Right Atrium	heart
15	chr9:13932600-13933600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr9:13932800-13933000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:13932800-13933200	Enhancers	Fetal Lung	lung
18	chr9:13932800-13933600	Enhancers	Psoas Muscle	Psoas
19	chr9:13933000-13933400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:13933000-13933600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:13933000-13937400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:13933000-13937800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:13933200-13937000	Weak transcription	Fetal Lung	lung
24	chr9:13933400-13938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:13933600-13938200	Weak transcription	Fetal Heart	heart
26	chr9:13933600-13938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:13933600-13939000	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:13933600-13939600	Weak transcription	Adipose Nuclei	Adipose
29	chr9:13933600-13939600	Weak transcription	Left Ventricle	heart
30	chr9:13933600-13961600	Weak transcription	Psoas Muscle	Psoas
31	chr9:13934600-13935200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:13934800-13935200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:13934800-13938800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:13935800-13936200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:13936200-13942000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr9:13937000-13937200	Enhancers	Fetal Lung	lung
37	chr9:13937200-13938000	Weak transcription	Fetal Lung	lung
38	chr9:13937400-13939400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:13937400-13940000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:13937800-13939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:13938000-13939800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:13938000-13940000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:13938000-13940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:13938000-13943000	Enhancers	Fetal Lung	lung
45	chr9:13938200-13938400	Enhancers	Right Ventricle	heart
46	chr9:13938200-13939800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:13938200-13940800	Enhancers	HMEC	breast
48	chr9:13938200-13941000	Enhancers	Fetal Heart	heart
49	chr9:13938400-13939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:13938400-13940800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links