Variant report

Variant	nsv516527
Chromosome Location	chr9:12738690-12748486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:
2	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:

Extended variants
information (count: 512 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs970946	chr9:12738690-12738691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570865135	chr9:12738730-12738731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185721969	chr9:12738732-12738733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190534937	chr9:12738735-12738736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539893194	chr9:12738739-12738740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199849476	chr9:12738803-12738804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5896532	chr9:12738805-12738806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397801526	chr9:12738807-12738808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202186840	chr9:12738808-12738809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200421701	chr9:12738809-12738810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs970947	chr9:12738813-12738814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546774516	chr9:12738814-12738815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535324161	chr9:12738875-12738876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117811812	chr9:12738892-12738893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572055831	chr9:12738948-12738949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532276857	chr9:12738993-12738994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11793178	chr9:12739012-12739013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181036713	chr9:12739017-12739018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563699412	chr9:12739126-12739127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10733246	chr9:12739132-12739133	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550667271	chr9:12739149-12739150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567382165	chr9:12739190-12739191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536465058	chr9:12739220-12739221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553123401	chr9:12739232-12739233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186530695	chr9:12739233-12739234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10960774	chr9:12739313-12739314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144859682	chr9:12739317-12739318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138770678	chr9:12739415-12739416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191345920	chr9:12739433-12739434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560971301	chr9:12739527-12739528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574548325	chr9:12739540-12739541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540453747	chr9:12739545-12739546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560065373	chr9:12739590-12739591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139356686	chr9:12739599-12739600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12004363	chr9:12739695-12739696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552187514	chr9:12739717-12739718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562757353	chr9:12739728-12739729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531920861	chr9:12739738-12739739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182746395	chr9:12739749-12739750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550526530	chr9:12739772-12739773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567443565	chr9:12739774-12739775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536326223	chr9:12739894-12739895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141492944	chr9:12739895-12739896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117226333	chr9:12739902-12739903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539365524	chr9:12739923-12739924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10756402	chr9:12739948-12739949	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146186098	chr9:12739955-12739956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537853557	chr9:12740001-12740002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548110824	chr9:12740019-12740020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373339748	chr9:12740027-12740028	Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12719200-12740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:12737400-12739200	Enhancers	Fetal Lung	lung
3	chr9:12737400-12739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:12737600-12741000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:12737800-12739400	Enhancers	NHDF-Ad	bronchial
6	chr9:12737800-12741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:12738000-12738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:12738600-12739600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:12738800-12739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:12739000-12739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:12739000-12739400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:12739000-12739600	Enhancers	Osteobl	bone
13	chr9:12739000-12741200	Enhancers	HMEC	breast
14	chr9:12739200-12739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:12739200-12739600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:12739200-12739600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:12739200-12739600	Enhancers	Fetal Intestine Small	intestine
18	chr9:12739200-12740200	Weak transcription	Fetal Lung	lung
19	chr9:12739200-12741000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:12739200-12741400	Enhancers	NHEK	skin
21	chr9:12739400-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:12739400-12740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:12739600-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:12739600-12740600	Weak transcription	Osteobl	bone
25	chr9:12739600-12740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:12740000-12741000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:12740000-12741400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:12740200-12740400	Enhancers	Fetal Lung	lung
29	chr9:12740400-12741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:12740600-12741200	Enhancers	Osteobl	bone
31	chr9:12740800-12741200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:12740800-12741200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:12741000-12741200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr9:12741000-12741400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:12741400-12748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:12741600-12747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:12747600-12748600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:12747600-12748800	Enhancers	NHDF-Ad	bronchial
39	chr9:12747600-12749200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:12747800-12748600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:12747800-12748600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:12748000-12748600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:12748000-12748800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:12748200-12748600	Enhancers	Hela-S3	cervix
45	chr9:12748200-12748600	Enhancers	HMEC	breast
46	chr9:12748200-12748800	Enhancers	NHEK	skin
47	chr9:12748200-12749200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:12748400-12749400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:12748400-12749400	Enhancers	Rectal Mucosa Donor 31	rectum

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