Variant report

Variant	nsv892198
Chromosome Location	chr9:7438953-7466024
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	chr9:7456877..7459465-chr9:7461939..7464244,2	K562	blood:
2	chr9:7456877..7459465-chr9:7461939..7464244,2	K562	blood:

Extended variants
information (count: 1134 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs767642	chr9:7438953-7438954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577785527	chr9:7438965-7438966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59972132	chr9:7438968-7438969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371235163	chr9:7439027-7439028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148339080	chr9:7439065-7439066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568337680	chr9:7439073-7439074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558712525	chr9:7439078-7439079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142255929	chr9:7439184-7439185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554967197	chr9:7439287-7439288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573281712	chr9:7439301-7439302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145916716	chr9:7439356-7439357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559005292	chr9:7439387-7439388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577306752	chr9:7439401-7439402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12686463	chr9:7439412-7439413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184533747	chr9:7439461-7439462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562769504	chr9:7439474-7439475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375329497	chr9:7439492-7439493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574764588	chr9:7439497-7439498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138476632	chr9:7439504-7439505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367961168	chr9:7439529-7439530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190286922	chr9:7439537-7439538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527286072	chr9:7439567-7439568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192984994	chr9:7439609-7439610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564201318	chr9:7439622-7439623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201439862	chr9:7439630-7439631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4742350	chr9:7439636-7439637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185273517	chr9:7439637-7439638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114384856	chr9:7439645-7439646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535705629	chr9:7439649-7439650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142380799	chr9:7439656-7439657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538120976	chr9:7439661-7439662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542845975	chr9:7439669-7439670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554930447	chr9:7439687-7439688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566025741	chr9:7439706-7439707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189710155	chr9:7439734-7439735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181207694	chr9:7439784-7439785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570903290	chr9:7439842-7439843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537976973	chr9:7439849-7439850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111555942	chr9:7439870-7439871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150505314	chr9:7439871-7439872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13292143	chr9:7439908-7439909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542073623	chr9:7439919-7439920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554042979	chr9:7439926-7439927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372812522	chr9:7439935-7439936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573445865	chr9:7439977-7439978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139522413	chr9:7439989-7439990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540713101	chr9:7440048-7440049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545771378	chr9:7440050-7440051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79392149	chr9:7440082-7440083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185371784	chr9:7440087-7440088	Enhancers	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7434600-7439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:7434600-7439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:7434800-7439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:7434800-7439400	Weak transcription	NHEK	skin
5	chr9:7438000-7440400	Enhancers	HMEC	breast
6	chr9:7438400-7439400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:7438800-7440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:7438800-7440400	Enhancers	Fetal Muscle Leg	muscle
9	chr9:7439000-7440400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:7439000-7440400	Enhancers	HSMMtube	muscle
11	chr9:7439400-7440200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:7439400-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:7439400-7440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:7439400-7440400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:7439400-7440400	Enhancers	NHEK	skin
16	chr9:7439600-7440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:7439600-7440200	Enhancers	Brain Germinal Matrix	brain
18	chr9:7439600-7440200	Enhancers	Brain Hippocampus Middle	brain
19	chr9:7439600-7440400	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:7439600-7440400	Enhancers	Brain Substantia Nigra	brain
21	chr9:7439800-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:7439800-7440200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:7439800-7440400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:7440400-7442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:7440400-7442400	Weak transcription	NHEK	skin
26	chr9:7440400-7442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:7440400-7443000	Weak transcription	HMEC	breast
28	chr9:7440400-7452400	Weak transcription	HSMMtube	muscle
29	chr9:7440600-7446800	Weak transcription	Psoas Muscle	Psoas
30	chr9:7442200-7442400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:7442200-7442800	Enhancers	Esophagus	oesophagus
32	chr9:7442400-7442600	Active TSS	HSMM	muscle
33	chr9:7442400-7442600	Active TSS	NHEK	skin
34	chr9:7442400-7442800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:7442400-7449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:7442600-7442800	Flanking Active TSS	HSMM	muscle
37	chr9:7442600-7442800	Flanking Active TSS	NHEK	skin
38	chr9:7442600-7443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:7443000-7443400	Enhancers	Fetal Stomach	stomach
40	chr9:7443000-7444000	Enhancers	HMEC	breast
41	chr9:7449800-7450000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:7449800-7450000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:7451200-7451600	Enhancers	Rectal Smooth Muscle	rectum
44	chr9:7451200-7453000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:7452000-7452400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:7452200-7452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:7452200-7453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:7452400-7452800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:7452400-7452800	Enhancers	HSMMtube	muscle
50	chr9:7452800-7455000	Weak transcription	HSMMtube	muscle

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