Variant report

Variant	nsv892588
Chromosome Location	chr9:13667639-13715063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:13686906..13689504-chr9:14312996..14314764,2	MCF-7	breast:
2	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
3	chr9:13666426..13668070-chr9:13672075..13673636,2	K562	blood:
4	chr9:13446842..13447486-chr9:13688897..13689613,3	MCF-7	breast:
5	chr6:116274902..116275536-chr9:13688718..13689412,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 1808 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1808 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961191	chr9:13667639-13667640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187042842	chr9:13667643-13667644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544275374	chr9:13667649-13667650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561303462	chr9:13667675-13667676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190737188	chr9:13667719-13667720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202083506	chr9:13667738-13667739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57939107	chr9:13667739-13667740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547144318	chr9:13667749-13667750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182611441	chr9:13667757-13667758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532172318	chr9:13667765-13667766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187315403	chr9:13667766-13667767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140226457	chr9:13667770-13667771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77584272	chr9:13667792-13667793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547774493	chr9:13667826-13667827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567755512	chr9:13667834-13667835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533623087	chr9:13667855-13667856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532245066	chr9:13667860-13667861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201724548	chr9:13667867-13667868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553425536	chr9:13667877-13667878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562302169	chr9:13667907-13667908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145274561	chr9:13667933-13667934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191409655	chr9:13667935-13667936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137895664	chr9:13667953-13667954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78090018	chr9:13667994-13667995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575836480	chr9:13668034-13668035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544921985	chr9:13668050-13668051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568165247	chr9:13668053-13668054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73647702	chr9:13668063-13668064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182860175	chr9:13668078-13668079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560530431	chr9:13668086-13668087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113005207	chr9:13668087-13668088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532642397	chr9:13668105-13668106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150116386	chr9:13668106-13668107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7873424	chr9:13668107-13668108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188612465	chr9:13668141-13668142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568037345	chr9:13668219-13668220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567885507	chr9:13668272-13668273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547000986	chr9:13668281-13668282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111498497	chr9:13668301-13668302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539558086	chr9:13668312-13668313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7859632	chr9:13668322-13668323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575820772	chr9:13668324-13668325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7873377	chr9:13668331-13668332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555265459	chr9:13668374-13668375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575219474	chr9:13668386-13668387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77127615	chr9:13668391-13668392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536133900	chr9:13668419-13668420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577259553	chr9:13668442-13668443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567187779	chr9:13668449-13668450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539298782	chr9:13668478-13668479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13665800-13675800	Weak transcription	Left Ventricle	heart
2	chr9:13672400-13673200	Enhancers	HMEC	breast
3	chr9:13673200-13674600	Weak transcription	HMEC	breast
4	chr9:13673600-13674600	Enhancers	Fetal Heart	heart
5	chr9:13674600-13674800	Flanking Active TSS	Fetal Heart	heart
6	chr9:13674600-13675800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:13674600-13675800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:13674600-13676000	Enhancers	HMEC	breast
9	chr9:13674600-13676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:13674800-13675200	Enhancers	Fetal Heart	heart
11	chr9:13674800-13675800	Enhancers	Right Atrium	heart
12	chr9:13675200-13675600	Enhancers	Fetal Muscle Leg	muscle
13	chr9:13675200-13675800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:13675200-13676000	Flanking Active TSS	Fetal Heart	heart
15	chr9:13675400-13676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:13675600-13676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:13675600-13676200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:13675800-13676200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:13675800-13676200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:13675800-13676200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:13675800-13676200	Enhancers	Placenta	Placenta
22	chr9:13675800-13676200	Enhancers	Left Ventricle	heart
23	chr9:13675800-13684800	Weak transcription	Right Atrium	heart
24	chr9:13676000-13677400	Enhancers	Fetal Heart	heart
25	chr9:13677400-13684800	Weak transcription	Fetal Heart	heart
26	chr9:13683600-13686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:13684600-13684800	Enhancers	Fetal Lung	lung
28	chr9:13684800-13685000	Enhancers	Fetal Heart	heart
29	chr9:13684800-13685200	Flanking Active TSS	Fetal Lung	lung
30	chr9:13684800-13685200	Enhancers	Right Atrium	heart
31	chr9:13684800-13685200	Enhancers	HUVEC	blood vessel
32	chr9:13684800-13685400	Enhancers	Brain Hippocampus Middle	brain
33	chr9:13684800-13686000	Enhancers	Psoas Muscle	Psoas
34	chr9:13684800-13686200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:13685000-13685200	Enhancers	Aorta	Aorta
36	chr9:13685000-13685200	Enhancers	Left Ventricle	heart
37	chr9:13685000-13685400	Enhancers	Brain Anterior Caudate	brain
38	chr9:13685000-13685400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:13685000-13685600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:13685000-13688000	Weak transcription	Fetal Heart	heart
41	chr9:13685200-13685800	Weak transcription	Left Ventricle	heart
42	chr9:13685200-13688600	Weak transcription	Aorta	Aorta
43	chr9:13685200-13688600	Weak transcription	Right Atrium	heart
44	chr9:13685200-13688600	Weak transcription	HUVEC	blood vessel
45	chr9:13685800-13686000	Enhancers	Left Ventricle	heart
46	chr9:13686000-13688600	Weak transcription	Left Ventricle	heart
47	chr9:13686000-13688600	Weak transcription	Psoas Muscle	Psoas
48	chr9:13686200-13687800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:13686400-13686800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr9:13686600-13687000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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