Variant report

Variant	nsv8412
Chromosome Location	chr9:7542679-7544390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546770781	chr9:7542699-7542700	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142575265	chr9:7542711-7542712	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374579249	chr9:7542714-7542715	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183524319	chr9:7542726-7542727	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538884512	chr9:7542731-7542732	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376521042	chr9:7542734-7542735	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556990315	chr9:7542745-7542746	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78265834	chr9:7542775-7542776	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148506121	chr9:7542782-7542783	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555832587	chr9:7542788-7542789	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188466944	chr9:7542792-7542793	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577487409	chr9:7542812-7542813	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190274079	chr9:7542814-7542815	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142895919	chr9:7542818-7542819	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182811238	chr9:7542820-7542821	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545650981	chr9:7542856-7542857	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7043561	chr9:7542883-7542884	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531141982	chr9:7542891-7542892	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548558243	chr9:7542926-7542927	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560593722	chr9:7542934-7542935	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10976384	chr9:7542967-7542968	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546387236	chr9:7542968-7542969	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79189553	chr9:7542982-7542983	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538480299	chr9:7542998-7542999	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548518432	chr9:7543015-7543016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73407602	chr9:7543037-7543038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs117179670	chr9:7543038-7543039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151058112	chr9:7543050-7543051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115762075	chr9:7543114-7543115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs568845185	chr9:7543132-7543133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535078703	chr9:7543143-7543144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139918149	chr9:7543145-7543146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs578067541	chr9:7543146-7543147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs143764478	chr9:7543158-7543159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537960342	chr9:7543166-7543167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187175305	chr9:7543174-7543175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372847859	chr9:7543193-7543194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568320883	chr9:7543206-7543207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116191189	chr9:7543209-7543210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560507183	chr9:7543210-7543211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62530069	chr9:7543216-7543217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146885597	chr9:7543230-7543231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564807450	chr9:7543237-7543238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532270146	chr9:7543251-7543252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140692819	chr9:7543294-7543295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567917610	chr9:7543296-7543297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12348981	chr9:7543304-7543305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191550091	chr9:7543313-7543314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548516450	chr9:7543329-7543330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12353094	chr9:7543336-7543337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7535000-7542800	Weak transcription	Fetal Lung	lung
2	chr9:7537200-7543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7540800-7549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:7541600-7544000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:7541800-7543400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:7542000-7542800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:7542000-7543600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:7542200-7542800	Enhancers	Brain Hippocampus Middle	brain
9	chr9:7542200-7543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:7542200-7543000	Enhancers	Fetal Muscle Leg	muscle
11	chr9:7542200-7543200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr9:7542200-7543200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:7542200-7543400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:7542200-7543400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:7542200-7543600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:7542200-7543600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:7542200-7543800	Enhancers	Brain Anterior Caudate	brain
18	chr9:7542400-7542800	Enhancers	Brain Substantia Nigra	brain
19	chr9:7542400-7543200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr9:7542400-7543200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:7542400-7543400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:7542400-7543800	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:7542600-7542800	Enhancers	Brain Angular Gyrus	brain
24	chr9:7542600-7543000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:7542600-7543000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr9:7542800-7543000	Enhancers	Fetal Lung	lung
27	chr9:7542800-7543200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:7542800-7543200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr9:7542800-7543200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr9:7542800-7543200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr9:7543000-7543200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:7543000-7543200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:7543000-7543200	Enhancers	Fetal Brain Female	brain
34	chr9:7543000-7544000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:7543000-7548800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:7543200-7543400	Enhancers	Brain Angular Gyrus	brain
37	chr9:7543200-7543600	Enhancers	Brain Hippocampus Middle	brain
38	chr9:7543200-7543800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr9:7543200-7543800	Enhancers	Brain Substantia Nigra	brain
40	chr9:7543200-7548800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:7543200-7548800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:7543400-7543600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:7543400-7544600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:7543400-7548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:7543400-7548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:7543400-7548600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr9:7543600-7543800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:7543600-7548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:7543600-7549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:7543600-7549200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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